Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2005-07

AUTHORS

Yao Bang Lu, Keiko Kobayashi, Miharu Ushikai, Ayako Tabata, Mikio Iijima, Meng Xian Li, Lei Lei, Kotaro Kawabe, Satoru Taura, Yanling Yang, Tze-Tze Liu, Szu-Hui Chiang, Kwang-Jen Hsiao, Yu-Lung Lau, Lap-Chee Tsui, Dong Hwan Lee, Takeyori Saheki

ABSTRACT

Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and Vietnamese patients were the same as those in Japanese patients. In the present study, we identified a novel mutation IVS6+1G>C in a Japanese CTLN2 patient and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm our preliminary results that the carrier frequency was high in Asian populations. Mutations 851-854del and 1638-1660dup were found in all Asian countries tested, and 851-854del associated with 290-haplotype in microsatellite marker D7S1812 was especially frequent. Other mutations frequently detected were IVS11+1G>A in Japanese and Korean, S225X in Japanese, and IVS6+5G>A in Chinese populations. We found a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River. We detected many carriers in Chinese (64/4169 = 1/65), Japanese (20/1372 = 1/69) and Korean (22/2455 = 1/112) populations, suggesting that over 80,000 East Asians are homozygotes with two mutated SLC25A13 alleles. More... »

PAGES

338

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10038-005-0262-8

DOI

http://dx.doi.org/10.1007/s10038-005-0262-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1032585655

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16059747


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Calcium-Binding Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Citrullinemia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Primers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Far East", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Components", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Carrier Screening", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haplotypes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Membrane Transport Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Microsatellite Repeats", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mitochondrial Membrane Transport Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mitochondrial Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Organic Anion Transporters", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Restriction Fragment Length", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lu", 
        "givenName": "Yao Bang", 
        "id": "sg:person.0606707532.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606707532.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kobayashi", 
        "givenName": "Keiko", 
        "id": "sg:person.015377614044.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015377614044.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ushikai", 
        "givenName": "Miharu", 
        "id": "sg:person.015377253354.83", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015377253354.83"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tabata", 
        "givenName": "Ayako", 
        "id": "sg:person.0723136132.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723136132.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Iijima", 
        "givenName": "Mikio", 
        "id": "sg:person.01144357177.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144357177.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Li", 
        "givenName": "Meng Xian", 
        "id": "sg:person.01275304013.67", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275304013.67"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lei", 
        "givenName": "Lei", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Division of Gene Research, Research Centre for Life Science Resources, Kagoshima University, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kawabe", 
        "givenName": "Kotaro", 
        "id": "sg:person.01365324760.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365324760.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Division of Gene Research, Research Centre for Life Science Resources, Kagoshima University, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Taura", 
        "givenName": "Satoru", 
        "id": "sg:person.0612661455.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612661455.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Peking University First Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411472.5", 
          "name": [
            "Department of Pediatrics, The First Hospital of Peking University, , China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yang", 
        "givenName": "Yanling", 
        "id": "sg:person.0654157004.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654157004.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Yang Ming University", 
          "id": "https://www.grid.ac/institutes/grid.260770.4", 
          "name": [
            "Genome Research Center, National Yang-Ming University, , Taiwan, ROC"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Liu", 
        "givenName": "Tze-Tze", 
        "id": "sg:person.0763657353.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763657353.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Taipei Veterans General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.278247.c", 
          "name": [
            "Taipei Veterans General Hospital, , Taiwan, ROC"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chiang", 
        "givenName": "Szu-Hui", 
        "id": "sg:person.0615522657.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615522657.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Taipei Veterans General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.278247.c", 
          "name": [
            "Taipei Veterans General Hospital, , Taiwan, ROC"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hsiao", 
        "givenName": "Kwang-Jen", 
        "id": "sg:person.01044355223.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044355223.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Hong Kong", 
          "id": "https://www.grid.ac/institutes/grid.194645.b", 
          "name": [
            "Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, , People\u2019s Republic of China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lau", 
        "givenName": "Yu-Lung", 
        "id": "sg:person.0716701631.65", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716701631.65"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Hong Kong", 
          "id": "https://www.grid.ac/institutes/grid.194645.b", 
          "name": [
            "Vice Chancellor\u2019s Office, The University of Hong Kong, Hong Kong SAR, , People\u2019s Republic of China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tsui", 
        "givenName": "Lap-Chee", 
        "id": "sg:person.01243057047.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243057047.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Soonchunhyang University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412678.e", 
          "name": [
            "Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lee", 
        "givenName": "Dong Hwan", 
        "id": "sg:person.0600054501.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600054501.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kagoshima University", 
          "id": "https://www.grid.ac/institutes/grid.258333.c", 
          "name": [
            "Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, , Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Saheki", 
        "givenName": "Takeyori", 
        "id": "sg:person.0711076661.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0711076661.11"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/s100380200046", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001717160", 
          "https://doi.org/10.1007/s100380200046"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.10022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002501668"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.95.20.11763", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005607249"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/lt.20131", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010763795"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1067/mpd.2001.113361", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011775726"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320390226", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011924481"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320390226", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011924481"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/emboj/20.18.5060", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013557384"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2169/internalmedicine.44.188", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013924760"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390000430", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016038457", 
          "https://doi.org/10.1007/s004390000430"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390000430", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016038457", 
          "https://doi.org/10.1007/s004390000430"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00007890-200101150-00027", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016390233"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00007890-200101150-00027", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016390233"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01790088", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017036145", 
          "https://doi.org/10.1007/bf01790088"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01790088", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017036145", 
          "https://doi.org/10.1007/bf01790088"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.38.7.e23", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019275921"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-003-1019-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019655396", 
          "https://doi.org/10.1007/s00439-003-1019-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-003-1019-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019655396", 
          "https://doi.org/10.1007/s00439-003-1019-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2004.06.018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019674331"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1570-0232(02)00077-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021115125"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390000448", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024440743", 
          "https://doi.org/10.1007/s004390000448"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-004-1549-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025092961", 
          "https://doi.org/10.1007/s00431-004-1549-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00286699", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031223248", 
          "https://doi.org/10.1007/bf00286699"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1096-7192(02)00167-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031694316"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1096-7192(02)00167-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031694316"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1386-6346(02)00331-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034055889"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1386-6346(02)00331-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034055889"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1999.6006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036659269"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-002-1045-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036918980", 
          "https://doi.org/10.1007/s00431-002-1045-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jnnp.71.5.663", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037389431"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1067/mpd.2001.113264", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037626296"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bfb0034071", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043022755", 
          "https://doi.org/10.1007/bfb0034071"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bfb0034071", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043022755", 
          "https://doi.org/10.1007/bfb0034071"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-94-010-0688-0_33", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044865719", 
          "https://doi.org/10.1007/978-94-010-0688-0_33"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-94-010-0688-0_33", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044865719", 
          "https://doi.org/10.1007/978-94-010-0688-0_33"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-1-4419-9023-5_10", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048885858", 
          "https://doi.org/10.1007/978-1-4419-9023-5_10"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-1-4419-9023-5_10", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048885858", 
          "https://doi.org/10.1007/978-1-4419-9023-5_10"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/hep.510250519", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049155624"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/01.pdr.0000139713.64264.bc", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049394462", 
          "https://doi.org/10.1203/01.pdr.0000139713.64264.bc"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/01.pdr.0000139713.64264.bc", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049394462", 
          "https://doi.org/10.1203/01.pdr.0000139713.64264.bc"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/9667", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052766803", 
          "https://doi.org/10.1038/9667"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/9667", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052766803", 
          "https://doi.org/10.1038/9667"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1096-7192(03)00140-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053589604"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1096-7192(03)00140-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053589604"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302680", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610247"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/323299", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058624110"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.283.5407.1426", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062564360"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.7326/0003-4819-141-7-200410050-00028-w1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1073707711"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-003-1171-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1075268800", 
          "https://doi.org/10.1007/s00431-003-1171-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082478031", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082653218", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2005-07", 
    "datePublishedReg": "2005-07-01", 
    "description": "Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and Vietnamese patients were the same as those in Japanese patients. In the present study, we identified a novel mutation IVS6+1G>C in a Japanese CTLN2 patient and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm our preliminary results that the carrier frequency was high in Asian populations. Mutations 851-854del and 1638-1660dup were found in all Asian countries tested, and 851-854del associated with 290-haplotype in microsatellite marker D7S1812 was especially frequent. Other mutations frequently detected were IVS11+1G>A in Japanese and Korean, S225X in Japanese, and IVS6+5G>A in Chinese populations. We found a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River. We detected many carriers in Chinese (64/4169 = 1/65), Japanese (20/1372 = 1/69) and Korean (22/2455 = 1/112) populations, suggesting that over 80,000 East Asians are homozygotes with two mutated SLC25A13 alleles.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s10038-005-0262-8", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1294984", 
        "issn": [
          "1434-5161", 
          "1435-232X"
        ], 
        "name": "Journal of Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "7", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "50"
      }
    ], 
    "name": "Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency", 
    "pagination": "338", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "9b3c50957495038a466653991b720833373d87c43f9dd21bba15366f4a3348ce"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16059747"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9808008"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s10038-005-0262-8"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1032585655"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s10038-005-0262-8", 
      "https://app.dimensions.ai/details/publication/pub.1032585655"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T18:08", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8675_00000425.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/jhg200551"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s10038-005-0262-8'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10038-005-0262-8'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10038-005-0262-8'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10038-005-0262-8'


 

This table displays all metadata directly associated to this object as RDF triples.

383 TRIPLES      21 PREDICATES      82 URIs      36 LITERALS      24 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s10038-005-0262-8 schema:about N05c2506b431e46ce991f2ac6125dfa2d
2 N0e5b4cc8161f454d874270d4acb76f46
3 N1a63fb4a0c834c71b4c622bc5b94aa3e
4 N52b71c7b43304741a1a1fe2b1359008d
5 N6481493005f244f5a52a40165f9ad840
6 N7820e2ce0ccf47c8bfae054591636e1a
7 N8e4ec01bcca04d6981c9ae2bf2faf392
8 N9958d1f18d6149e9925f2b54bb37015d
9 N9a1ca48d31e94422a2de3fdf9adbda15
10 Nbf5342dc74944ff1815c770238fb7faf
11 Nc2ac478cb76a45e8a64013af7ef8efaa
12 Nc31fe9da41f94c8fb901c8854322a86d
13 Nc6649f95c42f4116907c3800643f7014
14 Ncfca7c2b45074884aca5ca1ff1c5744b
15 Nd7db78e4609940b38395f30d7cd01779
16 anzsrc-for:06
17 anzsrc-for:0604
18 schema:author N008cdc5d16104fba9c1e8c470c2a8c49
19 schema:citation sg:pub.10.1007/978-1-4419-9023-5_10
20 sg:pub.10.1007/978-94-010-0688-0_33
21 sg:pub.10.1007/bf00286699
22 sg:pub.10.1007/bf01790088
23 sg:pub.10.1007/bfb0034071
24 sg:pub.10.1007/s00431-002-1045-2
25 sg:pub.10.1007/s00431-003-1171-5
26 sg:pub.10.1007/s00431-004-1549-z
27 sg:pub.10.1007/s00439-003-1019-0
28 sg:pub.10.1007/s004390000430
29 sg:pub.10.1007/s004390000448
30 sg:pub.10.1007/s100380200046
31 sg:pub.10.1038/9667
32 sg:pub.10.1203/01.pdr.0000139713.64264.bc
33 https://app.dimensions.ai/details/publication/pub.1082478031
34 https://app.dimensions.ai/details/publication/pub.1082653218
35 https://doi.org/10.1002/ajmg.1320390226
36 https://doi.org/10.1002/hep.510250519
37 https://doi.org/10.1002/humu.10022
38 https://doi.org/10.1002/lt.20131
39 https://doi.org/10.1006/geno.1999.6006
40 https://doi.org/10.1016/j.ymgme.2004.06.018
41 https://doi.org/10.1016/s1096-7192(02)00167-1
42 https://doi.org/10.1016/s1096-7192(03)00140-9
43 https://doi.org/10.1016/s1386-6346(02)00331-5
44 https://doi.org/10.1016/s1570-0232(02)00077-6
45 https://doi.org/10.1067/mpd.2001.113264
46 https://doi.org/10.1067/mpd.2001.113361
47 https://doi.org/10.1073/pnas.95.20.11763
48 https://doi.org/10.1086/302680
49 https://doi.org/10.1086/323299
50 https://doi.org/10.1093/emboj/20.18.5060
51 https://doi.org/10.1097/00007890-200101150-00027
52 https://doi.org/10.1126/science.283.5407.1426
53 https://doi.org/10.1136/jmg.38.7.e23
54 https://doi.org/10.1136/jnnp.71.5.663
55 https://doi.org/10.2169/internalmedicine.44.188
56 https://doi.org/10.7326/0003-4819-141-7-200410050-00028-w1
57 schema:datePublished 2005-07
58 schema:datePublishedReg 2005-07-01
59 schema:description Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and Vietnamese patients were the same as those in Japanese patients. In the present study, we identified a novel mutation IVS6+1G>C in a Japanese CTLN2 patient and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm our preliminary results that the carrier frequency was high in Asian populations. Mutations 851-854del and 1638-1660dup were found in all Asian countries tested, and 851-854del associated with 290-haplotype in microsatellite marker D7S1812 was especially frequent. Other mutations frequently detected were IVS11+1G>A in Japanese and Korean, S225X in Japanese, and IVS6+5G>A in Chinese populations. We found a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River. We detected many carriers in Chinese (64/4169 = 1/65), Japanese (20/1372 = 1/69) and Korean (22/2455 = 1/112) populations, suggesting that over 80,000 East Asians are homozygotes with two mutated SLC25A13 alleles.
60 schema:genre research_article
61 schema:inLanguage en
62 schema:isAccessibleForFree true
63 schema:isPartOf N05ec0f82c74b4aa59398212e65556390
64 Ne347ced7ced6404997c5d1a2d2e9dde7
65 sg:journal.1294984
66 schema:name Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
67 schema:pagination 338
68 schema:productId N0264c15e814b4fee9276a2fd353d0168
69 N0d444265c63547989faad9c262c0616f
70 Naaf6c89de53641a5812759a3b33c364d
71 Nb4c4b65177a3493a9ad2c45ba9160354
72 Nc17dcc21b2084e7494ea15333dbb9ae8
73 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032585655
74 https://doi.org/10.1007/s10038-005-0262-8
75 schema:sdDatePublished 2019-04-10T18:08
76 schema:sdLicense https://scigraph.springernature.com/explorer/license/
77 schema:sdPublisher Nfdf4fdc2394d46bcb988e3ed978a3596
78 schema:url http://www.nature.com/articles/jhg200551
79 sgo:license sg:explorer/license/
80 sgo:sdDataset articles
81 rdf:type schema:ScholarlyArticle
82 N008cdc5d16104fba9c1e8c470c2a8c49 rdf:first sg:person.0606707532.43
83 rdf:rest Ne0ab8c0aa25641058658b79f7cf34e38
84 N0264c15e814b4fee9276a2fd353d0168 schema:name dimensions_id
85 schema:value pub.1032585655
86 rdf:type schema:PropertyValue
87 N0414aa6ff89a4bc1b2235221f9d2c752 rdf:first sg:person.0612661455.14
88 rdf:rest N26b0a835f3d04fc3ad04e463e567dce3
89 N05c2506b431e46ce991f2ac6125dfa2d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Humans
91 rdf:type schema:DefinedTerm
92 N05ec0f82c74b4aa59398212e65556390 schema:issueNumber 7
93 rdf:type schema:PublicationIssue
94 N0d444265c63547989faad9c262c0616f schema:name pubmed_id
95 schema:value 16059747
96 rdf:type schema:PropertyValue
97 N0e5b4cc8161f454d874270d4acb76f46 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
98 schema:name Calcium-Binding Proteins
99 rdf:type schema:DefinedTerm
100 N1a63fb4a0c834c71b4c622bc5b94aa3e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Far East
102 rdf:type schema:DefinedTerm
103 N26b0a835f3d04fc3ad04e463e567dce3 rdf:first sg:person.0654157004.34
104 rdf:rest Nd9c8fa37cf784bcb99aa3a3d22d247cc
105 N27dfa670082448bb8b9dfbb039ca63d0 rdf:first sg:person.0723136132.39
106 rdf:rest N48d273a0e03e42f09124b1e0405b9d7e
107 N34a141f04c9049a7aae3bf258e71652b rdf:first Nb2e49a61029f41fe9c96ba113ddf54cb
108 rdf:rest Nf7b34650974f4a82aacd2a0e01432512
109 N48d273a0e03e42f09124b1e0405b9d7e rdf:first sg:person.01144357177.10
110 rdf:rest Nebb7c7a84fc049108fc2011847965346
111 N52b71c7b43304741a1a1fe2b1359008d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name Genetic Carrier Screening
113 rdf:type schema:DefinedTerm
114 N53c7cc1710f6462bbb0fba2b53e96140 rdf:first sg:person.0600054501.36
115 rdf:rest Nec46e6d2c3c7473da88d7c1fa5bdb521
116 N5a4166db36c847038e2d1adea32e258b rdf:first sg:person.0615522657.36
117 rdf:rest N7cfa96eacffe4fa48656cc8cf3db2512
118 N6481493005f244f5a52a40165f9ad840 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Organic Anion Transporters
120 rdf:type schema:DefinedTerm
121 N7462cff7510448419bf7c4fe44562e89 rdf:first sg:person.015377253354.83
122 rdf:rest N27dfa670082448bb8b9dfbb039ca63d0
123 N7820e2ce0ccf47c8bfae054591636e1a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Microsatellite Repeats
125 rdf:type schema:DefinedTerm
126 N7cfa96eacffe4fa48656cc8cf3db2512 rdf:first sg:person.01044355223.31
127 rdf:rest Nb622b5353e3f4c8d8b8f242c4cf6b8b1
128 N8e4ec01bcca04d6981c9ae2bf2faf392 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name DNA Primers
130 rdf:type schema:DefinedTerm
131 N9958d1f18d6149e9925f2b54bb37015d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Citrullinemia
133 rdf:type schema:DefinedTerm
134 N9a1ca48d31e94422a2de3fdf9adbda15 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Haplotypes
136 rdf:type schema:DefinedTerm
137 Naadfcf36bac646d99176fd778f0dbf5e rdf:first sg:person.01243057047.05
138 rdf:rest N53c7cc1710f6462bbb0fba2b53e96140
139 Naaf6c89de53641a5812759a3b33c364d schema:name doi
140 schema:value 10.1007/s10038-005-0262-8
141 rdf:type schema:PropertyValue
142 Nb2e49a61029f41fe9c96ba113ddf54cb schema:affiliation https://www.grid.ac/institutes/grid.258333.c
143 schema:familyName Lei
144 schema:givenName Lei
145 rdf:type schema:Person
146 Nb4c4b65177a3493a9ad2c45ba9160354 schema:name nlm_unique_id
147 schema:value 9808008
148 rdf:type schema:PropertyValue
149 Nb622b5353e3f4c8d8b8f242c4cf6b8b1 rdf:first sg:person.0716701631.65
150 rdf:rest Naadfcf36bac646d99176fd778f0dbf5e
151 Nbf5342dc74944ff1815c770238fb7faf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Polymorphism, Restriction Fragment Length
153 rdf:type schema:DefinedTerm
154 Nc17dcc21b2084e7494ea15333dbb9ae8 schema:name readcube_id
155 schema:value 9b3c50957495038a466653991b720833373d87c43f9dd21bba15366f4a3348ce
156 rdf:type schema:PropertyValue
157 Nc2ac478cb76a45e8a64013af7ef8efaa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
158 schema:name Membrane Transport Proteins
159 rdf:type schema:DefinedTerm
160 Nc31fe9da41f94c8fb901c8854322a86d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
161 schema:name Mutation
162 rdf:type schema:DefinedTerm
163 Nc6649f95c42f4116907c3800643f7014 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
164 schema:name Mitochondrial Membrane Transport Proteins
165 rdf:type schema:DefinedTerm
166 Ncfca7c2b45074884aca5ca1ff1c5744b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
167 schema:name Mitochondrial Proteins
168 rdf:type schema:DefinedTerm
169 Nd7db78e4609940b38395f30d7cd01779 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Gene Components
171 rdf:type schema:DefinedTerm
172 Nd9c8fa37cf784bcb99aa3a3d22d247cc rdf:first sg:person.0763657353.07
173 rdf:rest N5a4166db36c847038e2d1adea32e258b
174 Ne0ab8c0aa25641058658b79f7cf34e38 rdf:first sg:person.015377614044.36
175 rdf:rest N7462cff7510448419bf7c4fe44562e89
176 Ne347ced7ced6404997c5d1a2d2e9dde7 schema:volumeNumber 50
177 rdf:type schema:PublicationVolume
178 Nebb7c7a84fc049108fc2011847965346 rdf:first sg:person.01275304013.67
179 rdf:rest N34a141f04c9049a7aae3bf258e71652b
180 Nec46e6d2c3c7473da88d7c1fa5bdb521 rdf:first sg:person.0711076661.11
181 rdf:rest rdf:nil
182 Nf7b34650974f4a82aacd2a0e01432512 rdf:first sg:person.01365324760.15
183 rdf:rest N0414aa6ff89a4bc1b2235221f9d2c752
184 Nfdf4fdc2394d46bcb988e3ed978a3596 schema:name Springer Nature - SN SciGraph project
185 rdf:type schema:Organization
186 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
187 schema:name Biological Sciences
188 rdf:type schema:DefinedTerm
189 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
190 schema:name Genetics
191 rdf:type schema:DefinedTerm
192 sg:journal.1294984 schema:issn 1434-5161
193 1435-232X
194 schema:name Journal of Human Genetics
195 rdf:type schema:Periodical
196 sg:person.01044355223.31 schema:affiliation https://www.grid.ac/institutes/grid.278247.c
197 schema:familyName Hsiao
198 schema:givenName Kwang-Jen
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044355223.31
200 rdf:type schema:Person
201 sg:person.01144357177.10 schema:affiliation https://www.grid.ac/institutes/grid.258333.c
202 schema:familyName Iijima
203 schema:givenName Mikio
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144357177.10
205 rdf:type schema:Person
206 sg:person.01243057047.05 schema:affiliation https://www.grid.ac/institutes/grid.194645.b
207 schema:familyName Tsui
208 schema:givenName Lap-Chee
209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243057047.05
210 rdf:type schema:Person
211 sg:person.01275304013.67 schema:affiliation https://www.grid.ac/institutes/grid.258333.c
212 schema:familyName Li
213 schema:givenName Meng Xian
214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275304013.67
215 rdf:type schema:Person
216 sg:person.01365324760.15 schema:affiliation https://www.grid.ac/institutes/grid.258333.c
217 schema:familyName Kawabe
218 schema:givenName Kotaro
219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365324760.15
220 rdf:type schema:Person
221 sg:person.015377253354.83 schema:affiliation https://www.grid.ac/institutes/grid.258333.c
222 schema:familyName Ushikai
223 schema:givenName Miharu
224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015377253354.83
225 rdf:type schema:Person
226 sg:person.015377614044.36 schema:affiliation https://www.grid.ac/institutes/grid.258333.c
227 schema:familyName Kobayashi
228 schema:givenName Keiko
229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015377614044.36
230 rdf:type schema:Person
231 sg:person.0600054501.36 schema:affiliation https://www.grid.ac/institutes/grid.412678.e
232 schema:familyName Lee
233 schema:givenName Dong Hwan
234 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600054501.36
235 rdf:type schema:Person
236 sg:person.0606707532.43 schema:affiliation https://www.grid.ac/institutes/grid.258333.c
237 schema:familyName Lu
238 schema:givenName Yao Bang
239 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606707532.43
240 rdf:type schema:Person
241 sg:person.0612661455.14 schema:affiliation https://www.grid.ac/institutes/grid.258333.c
242 schema:familyName Taura
243 schema:givenName Satoru
244 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612661455.14
245 rdf:type schema:Person
246 sg:person.0615522657.36 schema:affiliation https://www.grid.ac/institutes/grid.278247.c
247 schema:familyName Chiang
248 schema:givenName Szu-Hui
249 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615522657.36
250 rdf:type schema:Person
251 sg:person.0654157004.34 schema:affiliation https://www.grid.ac/institutes/grid.411472.5
252 schema:familyName Yang
253 schema:givenName Yanling
254 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654157004.34
255 rdf:type schema:Person
256 sg:person.0711076661.11 schema:affiliation https://www.grid.ac/institutes/grid.258333.c
257 schema:familyName Saheki
258 schema:givenName Takeyori
259 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0711076661.11
260 rdf:type schema:Person
261 sg:person.0716701631.65 schema:affiliation https://www.grid.ac/institutes/grid.194645.b
262 schema:familyName Lau
263 schema:givenName Yu-Lung
264 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716701631.65
265 rdf:type schema:Person
266 sg:person.0723136132.39 schema:affiliation https://www.grid.ac/institutes/grid.258333.c
267 schema:familyName Tabata
268 schema:givenName Ayako
269 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723136132.39
270 rdf:type schema:Person
271 sg:person.0763657353.07 schema:affiliation https://www.grid.ac/institutes/grid.260770.4
272 schema:familyName Liu
273 schema:givenName Tze-Tze
274 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763657353.07
275 rdf:type schema:Person
276 sg:pub.10.1007/978-1-4419-9023-5_10 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048885858
277 https://doi.org/10.1007/978-1-4419-9023-5_10
278 rdf:type schema:CreativeWork
279 sg:pub.10.1007/978-94-010-0688-0_33 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044865719
280 https://doi.org/10.1007/978-94-010-0688-0_33
281 rdf:type schema:CreativeWork
282 sg:pub.10.1007/bf00286699 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031223248
283 https://doi.org/10.1007/bf00286699
284 rdf:type schema:CreativeWork
285 sg:pub.10.1007/bf01790088 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017036145
286 https://doi.org/10.1007/bf01790088
287 rdf:type schema:CreativeWork
288 sg:pub.10.1007/bfb0034071 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043022755
289 https://doi.org/10.1007/bfb0034071
290 rdf:type schema:CreativeWork
291 sg:pub.10.1007/s00431-002-1045-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036918980
292 https://doi.org/10.1007/s00431-002-1045-2
293 rdf:type schema:CreativeWork
294 sg:pub.10.1007/s00431-003-1171-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1075268800
295 https://doi.org/10.1007/s00431-003-1171-5
296 rdf:type schema:CreativeWork
297 sg:pub.10.1007/s00431-004-1549-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1025092961
298 https://doi.org/10.1007/s00431-004-1549-z
299 rdf:type schema:CreativeWork
300 sg:pub.10.1007/s00439-003-1019-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019655396
301 https://doi.org/10.1007/s00439-003-1019-0
302 rdf:type schema:CreativeWork
303 sg:pub.10.1007/s004390000430 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016038457
304 https://doi.org/10.1007/s004390000430
305 rdf:type schema:CreativeWork
306 sg:pub.10.1007/s004390000448 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024440743
307 https://doi.org/10.1007/s004390000448
308 rdf:type schema:CreativeWork
309 sg:pub.10.1007/s100380200046 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001717160
310 https://doi.org/10.1007/s100380200046
311 rdf:type schema:CreativeWork
312 sg:pub.10.1038/9667 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052766803
313 https://doi.org/10.1038/9667
314 rdf:type schema:CreativeWork
315 sg:pub.10.1203/01.pdr.0000139713.64264.bc schema:sameAs https://app.dimensions.ai/details/publication/pub.1049394462
316 https://doi.org/10.1203/01.pdr.0000139713.64264.bc
317 rdf:type schema:CreativeWork
318 https://app.dimensions.ai/details/publication/pub.1082478031 schema:CreativeWork
319 https://app.dimensions.ai/details/publication/pub.1082653218 schema:CreativeWork
320 https://doi.org/10.1002/ajmg.1320390226 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011924481
321 rdf:type schema:CreativeWork
322 https://doi.org/10.1002/hep.510250519 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049155624
323 rdf:type schema:CreativeWork
324 https://doi.org/10.1002/humu.10022 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002501668
325 rdf:type schema:CreativeWork
326 https://doi.org/10.1002/lt.20131 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010763795
327 rdf:type schema:CreativeWork
328 https://doi.org/10.1006/geno.1999.6006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036659269
329 rdf:type schema:CreativeWork
330 https://doi.org/10.1016/j.ymgme.2004.06.018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019674331
331 rdf:type schema:CreativeWork
332 https://doi.org/10.1016/s1096-7192(02)00167-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031694316
333 rdf:type schema:CreativeWork
334 https://doi.org/10.1016/s1096-7192(03)00140-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053589604
335 rdf:type schema:CreativeWork
336 https://doi.org/10.1016/s1386-6346(02)00331-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034055889
337 rdf:type schema:CreativeWork
338 https://doi.org/10.1016/s1570-0232(02)00077-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021115125
339 rdf:type schema:CreativeWork
340 https://doi.org/10.1067/mpd.2001.113264 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037626296
341 rdf:type schema:CreativeWork
342 https://doi.org/10.1067/mpd.2001.113361 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011775726
343 rdf:type schema:CreativeWork
344 https://doi.org/10.1073/pnas.95.20.11763 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005607249
345 rdf:type schema:CreativeWork
346 https://doi.org/10.1086/302680 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610247
347 rdf:type schema:CreativeWork
348 https://doi.org/10.1086/323299 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058624110
349 rdf:type schema:CreativeWork
350 https://doi.org/10.1093/emboj/20.18.5060 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013557384
351 rdf:type schema:CreativeWork
352 https://doi.org/10.1097/00007890-200101150-00027 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016390233
353 rdf:type schema:CreativeWork
354 https://doi.org/10.1126/science.283.5407.1426 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062564360
355 rdf:type schema:CreativeWork
356 https://doi.org/10.1136/jmg.38.7.e23 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019275921
357 rdf:type schema:CreativeWork
358 https://doi.org/10.1136/jnnp.71.5.663 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037389431
359 rdf:type schema:CreativeWork
360 https://doi.org/10.2169/internalmedicine.44.188 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013924760
361 rdf:type schema:CreativeWork
362 https://doi.org/10.7326/0003-4819-141-7-200410050-00028-w1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1073707711
363 rdf:type schema:CreativeWork
364 https://www.grid.ac/institutes/grid.194645.b schema:alternateName University of Hong Kong
365 schema:name Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, , People’s Republic of China
366 Vice Chancellor’s Office, The University of Hong Kong, Hong Kong SAR, , People’s Republic of China
367 rdf:type schema:Organization
368 https://www.grid.ac/institutes/grid.258333.c schema:alternateName Kagoshima University
369 schema:name Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, , Japan
370 Division of Gene Research, Research Centre for Life Science Resources, Kagoshima University, , Japan
371 rdf:type schema:Organization
372 https://www.grid.ac/institutes/grid.260770.4 schema:alternateName National Yang Ming University
373 schema:name Genome Research Center, National Yang-Ming University, , Taiwan, ROC
374 rdf:type schema:Organization
375 https://www.grid.ac/institutes/grid.278247.c schema:alternateName Taipei Veterans General Hospital
376 schema:name Taipei Veterans General Hospital, , Taiwan, ROC
377 rdf:type schema:Organization
378 https://www.grid.ac/institutes/grid.411472.5 schema:alternateName Peking University First Hospital
379 schema:name Department of Pediatrics, The First Hospital of Peking University, , China
380 rdf:type schema:Organization
381 https://www.grid.ac/institutes/grid.412678.e schema:alternateName Soonchunhyang University Hospital
382 schema:name Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea
383 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...