ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-07

AUTHORS

Mahnoush Babaei, Midori Mitui, Eric R. Olson, Richard A. Gatti

ABSTRACT

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control, and DNA repair. We analyzed the 11q22-23 haplotypes and associated mutations of 16 Iranian families. We utilized standardized short tandem repeat (STR) haplotypes to enhance mutation identification. In addition to the STR markers, single-nucleotide polymorphism haplotypes were determined, using three critical polymorphisms. The entire gene was screened sequentially by protein truncation testing, single-strand conformation polymorphism, and denaturing high-performance liquid chromatography to identify the disease-causing mutations. Of the expected 32 mutations, 25 (78%) were identified. All but two mutations led to a truncated or null form of the ATM protein (nonsense, splice site, or frameshift). Twelve mutations were identified for 15 haplotypes. Five mutations were novel. Mutations were located throughout the entire gene, with no clustering. Despite the absence of an Iranian founder mutation, three-fourths of the families were homozygous, suggesting that many undetected ATM mutations still exist in Iran. This study establishes a database for Iranian A-T families, and extends the global spectrum of ATM mutations. More... »

PAGES

101-106

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-005-1254-7

DOI

http://dx.doi.org/10.1007/s00439-005-1254-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004402425

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15843990


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/2008/0601", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biochemistry and Cell Biology", 
        "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": "Ataxia Telangiectasia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ataxia Telangiectasia Mutated Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cell Cycle Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 11", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA-Binding Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Founder Effect", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haplotypes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Iran", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single-Stranded Conformational", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein-Serine-Threonine Kinases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Tumor Suppressor Proteins", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of California Los Angeles", 
          "id": "https://www.grid.ac/institutes/grid.19006.3e", 
          "name": [
            "The David Geffen School of Medicine, Department of Pathology, University of California, 675 Young Drive South, 90095-1732, Los Angeles, CA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Babaei", 
        "givenName": "Mahnoush", 
        "id": "sg:person.0725643002.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725643002.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California Los Angeles", 
          "id": "https://www.grid.ac/institutes/grid.19006.3e", 
          "name": [
            "The David Geffen School of Medicine, Department of Pathology, University of California, 675 Young Drive South, 90095-1732, Los Angeles, CA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mitui", 
        "givenName": "Midori", 
        "id": "sg:person.01363401511.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363401511.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Virginia Mason Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.416879.5", 
          "name": [
            "Benaroya Research Institute, 98101, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Olson", 
        "givenName": "Eric R.", 
        "id": "sg:person.01237153631.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237153631.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California Los Angeles", 
          "id": "https://www.grid.ac/institutes/grid.19006.3e", 
          "name": [
            "The David Geffen School of Medicine, Department of Pathology, University of California, 675 Young Drive South, 90095-1732, Los Angeles, CA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gatti", 
        "givenName": "Richard A.", 
        "id": "sg:person.01213447154.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01213447154.09"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/(sici)1098-1004(1999)14:2<156::aid-humu7>3.0.co;2-e", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001014141"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0165-4608(01)00594-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002437958"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/03014460310001652211", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002808208"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2003.09.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003419575"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2003.09.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003419575"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gad.10.19.2411", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003425282"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/09553009414552011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003615834"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1067/mpd.2002.123879", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005010183"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.10206", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005977050"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/336577a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006799620", 
          "https://doi.org/10.1038/336577a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/mgme.1999.2942", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007199259"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199112263252602", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013121638"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00208975", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013346206", 
          "https://doi.org/10.1007/bf00208975"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00208975", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013346206", 
          "https://doi.org/10.1007/bf00208975"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1071-9091(03)00026-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015034677"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1385/criai:20:1:87", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015800980", 
          "https://doi.org/10.1385/criai:20:1:87"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1089/1066527041410418", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017185537"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(00)80086-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019037417"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.10232", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021264390"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1529-8817.2005.00199.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021870219"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1529-8817.2005.00199.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021870219"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/09553009414550091", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023463778"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrc1011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026716666", 
          "https://doi.org/10.1038/nrc1011"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrc1011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026716666", 
          "https://doi.org/10.1038/nrc1011"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrc1011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026716666", 
          "https://doi.org/10.1038/nrc1011"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.dnarep.2004.04.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028251797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm198705213162101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028846880"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<287::aid-ajmg2>3.0.co;2-#", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029521560"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/5.12.2033", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029595511"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/jnci/94.3.205", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029651125"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20170", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030787068"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.20570", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032189705"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/mgme.2000.2998", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034401261"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0405155101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035513097"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng958", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037655459", 
          "https://doi.org/10.1038/ng958"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng958", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037655459", 
          "https://doi.org/10.1038/ng958"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.9341", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039061467"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nm1097-1155", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040380621", 
          "https://doi.org/10.1038/nm1097-1155"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0165-4608(96)00328-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040737731"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0902-89", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040996422", 
          "https://doi.org/10.1038/ng0902-89"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0902-89", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040996422", 
          "https://doi.org/10.1038/ng0902-89"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2004.06.023", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041347993"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.10295", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042235622"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0997-96", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043997544", 
          "https://doi.org/10.1038/ng0997-96"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.10156", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044736269"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200181", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046445751", 
          "https://doi.org/10.1038/sj.ejhg.5200181"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200181", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046445751", 
          "https://doi.org/10.1038/sj.ejhg.5200181"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0065-230x(01)83007-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047767510"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/mgme.1998.2693", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052760585"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/09553002.1994.11772027", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058349315"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/301673", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609283"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/301706", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609316"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/321296", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058623463"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/4.11.2025", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059645232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.7792600", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062649253"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074896175", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077410357", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/jnci/77.1.89", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1079761699"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082434155", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082434156", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082545435", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082683256", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082898648", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082961675", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000472231", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083050245"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2005-07", 
    "datePublishedReg": "2005-07-01", 
    "description": "Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control, and DNA repair. We analyzed the 11q22-23 haplotypes and associated mutations of 16 Iranian families. We utilized standardized short tandem repeat (STR) haplotypes to enhance mutation identification. In addition to the STR markers, single-nucleotide polymorphism haplotypes were determined, using three critical polymorphisms. The entire gene was screened sequentially by protein truncation testing, single-strand conformation polymorphism, and denaturing high-performance liquid chromatography to identify the disease-causing mutations. Of the expected 32 mutations, 25 (78%) were identified. All but two mutations led to a truncated or null form of the ATM protein (nonsense, splice site, or frameshift). Twelve mutations were identified for 15 haplotypes. Five mutations were novel. Mutations were located throughout the entire gene, with no clustering. Despite the absence of an Iranian founder mutation, three-fourths of the families were homozygous, suggesting that many undetected ATM mutations still exist in Iran. This study establishes a database for Iranian A-T families, and extends the global spectrum of ATM mutations.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00439-005-1254-7", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2558282", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "2-3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "117"
      }
    ], 
    "name": "ATM haplotypes and associated mutations in Iranian patients with ataxia\u2013telangiectasia: recurring homozygosity without a founder haplotype", 
    "pagination": "101-106", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "14fa4ddc9bc5cedb83359a562cb24322c7e8dc56c2d0a88d59b9f50a6592e738"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "15843990"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7613873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00439-005-1254-7"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1004402425"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00439-005-1254-7", 
      "https://app.dimensions.ai/details/publication/pub.1004402425"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T14:27", 
    "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/v90/0000000373_0000000373/records_13073_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs00439-005-1254-7"
  }
]
 

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/s00439-005-1254-7'

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/s00439-005-1254-7'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-005-1254-7'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-005-1254-7'


 

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

331 TRIPLES      21 PREDICATES      102 URIs      37 LITERALS      25 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00439-005-1254-7 schema:about N0a4a80a644c743d9afad771a5e5a7f17
2 N175beb085b714bb5bba6f208dd7dc380
3 N1c49f388e0f74e10bd035b7ea6040127
4 N2eec8394d1774cc39209f7a2af68bbe0
5 N319c7286fbaa4e2aafad7fc3d15d02d7
6 N51ee74c784da47e7820d184db4e1a3bf
7 N654d4d7327424e2d96f0002a5e8a101d
8 N7f3796a110c443168df891d34f03103a
9 N881f861653b449889445aa164cda12be
10 N8bed1e2a409c4aeaaa8bb632e1687f06
11 Na96cf7d512fd48cd8bd9b4e78a499e48
12 Nc016e54d7f194bee85e598cb18a3d043
13 Nd6e2188f93a84ded8b271e39fff7dae8
14 Nde73b483897444d08a3a4ba82207af78
15 Ne6ac001369454380b8ebe7f248678a95
16 Nf40b12132e3449f3bcc59773edc70f57
17 anzsrc-for:06
18 anzsrc-for:0601
19 schema:author Neb3f3b264b434b688f6c82b5677e84ca
20 schema:citation sg:pub.10.1007/bf00208975
21 sg:pub.10.1038/336577a0
22 sg:pub.10.1038/ng0902-89
23 sg:pub.10.1038/ng0997-96
24 sg:pub.10.1038/ng958
25 sg:pub.10.1038/nm1097-1155
26 sg:pub.10.1038/nrc1011
27 sg:pub.10.1038/sj.ejhg.5200181
28 sg:pub.10.1385/criai:20:1:87
29 https://app.dimensions.ai/details/publication/pub.1074896175
30 https://app.dimensions.ai/details/publication/pub.1077410357
31 https://app.dimensions.ai/details/publication/pub.1082434155
32 https://app.dimensions.ai/details/publication/pub.1082434156
33 https://app.dimensions.ai/details/publication/pub.1082545435
34 https://app.dimensions.ai/details/publication/pub.1082683256
35 https://app.dimensions.ai/details/publication/pub.1082898648
36 https://app.dimensions.ai/details/publication/pub.1082961675
37 https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<287::aid-ajmg2>3.0.co;2-#
38 https://doi.org/10.1002/(sici)1098-1004(1999)14:2<156::aid-humu7>3.0.co;2-e
39 https://doi.org/10.1002/ajmg.a.20570
40 https://doi.org/10.1002/humu.10156
41 https://doi.org/10.1002/humu.10206
42 https://doi.org/10.1002/humu.10232
43 https://doi.org/10.1002/humu.10295
44 https://doi.org/10.1002/humu.20170
45 https://doi.org/10.1002/humu.9341
46 https://doi.org/10.1006/mgme.1998.2693
47 https://doi.org/10.1006/mgme.1999.2942
48 https://doi.org/10.1006/mgme.2000.2998
49 https://doi.org/10.1016/j.cell.2004.06.023
50 https://doi.org/10.1016/j.dnarep.2004.04.010
51 https://doi.org/10.1016/j.ymgme.2003.09.008
52 https://doi.org/10.1016/s0065-230x(01)83007-4
53 https://doi.org/10.1016/s0092-8674(00)80086-0
54 https://doi.org/10.1016/s0165-4608(01)00594-5
55 https://doi.org/10.1016/s0165-4608(96)00328-7
56 https://doi.org/10.1016/s1071-9091(03)00026-3
57 https://doi.org/10.1056/nejm198705213162101
58 https://doi.org/10.1056/nejm199112263252602
59 https://doi.org/10.1067/mpd.2002.123879
60 https://doi.org/10.1073/pnas.0405155101
61 https://doi.org/10.1080/03014460310001652211
62 https://doi.org/10.1080/09553002.1994.11772027
63 https://doi.org/10.1080/09553009414550091
64 https://doi.org/10.1080/09553009414552011
65 https://doi.org/10.1086/301673
66 https://doi.org/10.1086/301706
67 https://doi.org/10.1086/321296
68 https://doi.org/10.1089/1066527041410418
69 https://doi.org/10.1093/hmg/4.11.2025
70 https://doi.org/10.1093/hmg/5.12.2033
71 https://doi.org/10.1093/jnci/77.1.89
72 https://doi.org/10.1093/jnci/94.3.205
73 https://doi.org/10.1101/gad.10.19.2411
74 https://doi.org/10.1111/j.1529-8817.2005.00199.x
75 https://doi.org/10.1126/science.7792600
76 https://doi.org/10.1159/000472231
77 schema:datePublished 2005-07
78 schema:datePublishedReg 2005-07-01
79 schema:description Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control, and DNA repair. We analyzed the 11q22-23 haplotypes and associated mutations of 16 Iranian families. We utilized standardized short tandem repeat (STR) haplotypes to enhance mutation identification. In addition to the STR markers, single-nucleotide polymorphism haplotypes were determined, using three critical polymorphisms. The entire gene was screened sequentially by protein truncation testing, single-strand conformation polymorphism, and denaturing high-performance liquid chromatography to identify the disease-causing mutations. Of the expected 32 mutations, 25 (78%) were identified. All but two mutations led to a truncated or null form of the ATM protein (nonsense, splice site, or frameshift). Twelve mutations were identified for 15 haplotypes. Five mutations were novel. Mutations were located throughout the entire gene, with no clustering. Despite the absence of an Iranian founder mutation, three-fourths of the families were homozygous, suggesting that many undetected ATM mutations still exist in Iran. This study establishes a database for Iranian A-T families, and extends the global spectrum of ATM mutations.
80 schema:genre research_article
81 schema:inLanguage en
82 schema:isAccessibleForFree false
83 schema:isPartOf N3df65f441aa248999209151848ec60b3
84 Ndb9bd46d4793488283bf56e702277c09
85 sg:journal.1085982
86 schema:name ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype
87 schema:pagination 101-106
88 schema:productId N5f005f1164ae496289e1f6382464b7e1
89 Nae0390b126e24ab798577a33056e9598
90 Nb75a0289379f4e2291eb3352da41ea49
91 Nc8682bbc02b642bca5e4ba80f7b15636
92 Nf345d315f12d48379e02d3d6b911f032
93 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004402425
94 https://doi.org/10.1007/s00439-005-1254-7
95 schema:sdDatePublished 2019-04-11T14:27
96 schema:sdLicense https://scigraph.springernature.com/explorer/license/
97 schema:sdPublisher Na983a8c2276f4d55b4161f5528713ab8
98 schema:url https://link.springer.com/10.1007%2Fs00439-005-1254-7
99 sgo:license sg:explorer/license/
100 sgo:sdDataset articles
101 rdf:type schema:ScholarlyArticle
102 N0a4a80a644c743d9afad771a5e5a7f17 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Female
104 rdf:type schema:DefinedTerm
105 N175beb085b714bb5bba6f208dd7dc380 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Tumor Suppressor Proteins
107 rdf:type schema:DefinedTerm
108 N1c49f388e0f74e10bd035b7ea6040127 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Mutation
110 rdf:type schema:DefinedTerm
111 N2eec8394d1774cc39209f7a2af68bbe0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name Protein-Serine-Threonine Kinases
113 rdf:type schema:DefinedTerm
114 N319c7286fbaa4e2aafad7fc3d15d02d7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name DNA-Binding Proteins
116 rdf:type schema:DefinedTerm
117 N3d8d6279effb443d97521541fae6f21e rdf:first sg:person.01363401511.18
118 rdf:rest Nd70c54380cd54b3b9fcdcb6db2933aba
119 N3df65f441aa248999209151848ec60b3 schema:issueNumber 2-3
120 rdf:type schema:PublicationIssue
121 N51ee74c784da47e7820d184db4e1a3bf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Chromosomes, Human, Pair 11
123 rdf:type schema:DefinedTerm
124 N59aadf6ce698463b8e2016b977ce1b5a rdf:first sg:person.01213447154.09
125 rdf:rest rdf:nil
126 N5f005f1164ae496289e1f6382464b7e1 schema:name pubmed_id
127 schema:value 15843990
128 rdf:type schema:PropertyValue
129 N654d4d7327424e2d96f0002a5e8a101d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
130 schema:name Iran
131 rdf:type schema:DefinedTerm
132 N7f3796a110c443168df891d34f03103a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
133 schema:name Humans
134 rdf:type schema:DefinedTerm
135 N881f861653b449889445aa164cda12be schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Male
137 rdf:type schema:DefinedTerm
138 N8bed1e2a409c4aeaaa8bb632e1687f06 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Cell Cycle Proteins
140 rdf:type schema:DefinedTerm
141 Na96cf7d512fd48cd8bd9b4e78a499e48 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Founder Effect
143 rdf:type schema:DefinedTerm
144 Na983a8c2276f4d55b4161f5528713ab8 schema:name Springer Nature - SN SciGraph project
145 rdf:type schema:Organization
146 Nae0390b126e24ab798577a33056e9598 schema:name nlm_unique_id
147 schema:value 7613873
148 rdf:type schema:PropertyValue
149 Nb75a0289379f4e2291eb3352da41ea49 schema:name readcube_id
150 schema:value 14fa4ddc9bc5cedb83359a562cb24322c7e8dc56c2d0a88d59b9f50a6592e738
151 rdf:type schema:PropertyValue
152 Nc016e54d7f194bee85e598cb18a3d043 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Ataxia Telangiectasia Mutated Proteins
154 rdf:type schema:DefinedTerm
155 Nc8682bbc02b642bca5e4ba80f7b15636 schema:name doi
156 schema:value 10.1007/s00439-005-1254-7
157 rdf:type schema:PropertyValue
158 Nd6e2188f93a84ded8b271e39fff7dae8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
159 schema:name Haplotypes
160 rdf:type schema:DefinedTerm
161 Nd70c54380cd54b3b9fcdcb6db2933aba rdf:first sg:person.01237153631.70
162 rdf:rest N59aadf6ce698463b8e2016b977ce1b5a
163 Ndb9bd46d4793488283bf56e702277c09 schema:volumeNumber 117
164 rdf:type schema:PublicationVolume
165 Nde73b483897444d08a3a4ba82207af78 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Ataxia Telangiectasia
167 rdf:type schema:DefinedTerm
168 Ne6ac001369454380b8ebe7f248678a95 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
169 schema:name Polymorphism, Single-Stranded Conformational
170 rdf:type schema:DefinedTerm
171 Neb3f3b264b434b688f6c82b5677e84ca rdf:first sg:person.0725643002.11
172 rdf:rest N3d8d6279effb443d97521541fae6f21e
173 Nf345d315f12d48379e02d3d6b911f032 schema:name dimensions_id
174 schema:value pub.1004402425
175 rdf:type schema:PropertyValue
176 Nf40b12132e3449f3bcc59773edc70f57 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
177 schema:name Homozygote
178 rdf:type schema:DefinedTerm
179 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
180 schema:name Biological Sciences
181 rdf:type schema:DefinedTerm
182 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
183 schema:name Biochemistry and Cell Biology
184 rdf:type schema:DefinedTerm
185 sg:grant.2558282 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-005-1254-7
186 rdf:type schema:MonetaryGrant
187 sg:journal.1085982 schema:issn 0340-6717
188 1432-1203
189 schema:name Human Genetics
190 rdf:type schema:Periodical
191 sg:person.01213447154.09 schema:affiliation https://www.grid.ac/institutes/grid.19006.3e
192 schema:familyName Gatti
193 schema:givenName Richard A.
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01213447154.09
195 rdf:type schema:Person
196 sg:person.01237153631.70 schema:affiliation https://www.grid.ac/institutes/grid.416879.5
197 schema:familyName Olson
198 schema:givenName Eric R.
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237153631.70
200 rdf:type schema:Person
201 sg:person.01363401511.18 schema:affiliation https://www.grid.ac/institutes/grid.19006.3e
202 schema:familyName Mitui
203 schema:givenName Midori
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363401511.18
205 rdf:type schema:Person
206 sg:person.0725643002.11 schema:affiliation https://www.grid.ac/institutes/grid.19006.3e
207 schema:familyName Babaei
208 schema:givenName Mahnoush
209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725643002.11
210 rdf:type schema:Person
211 sg:pub.10.1007/bf00208975 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013346206
212 https://doi.org/10.1007/bf00208975
213 rdf:type schema:CreativeWork
214 sg:pub.10.1038/336577a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006799620
215 https://doi.org/10.1038/336577a0
216 rdf:type schema:CreativeWork
217 sg:pub.10.1038/ng0902-89 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040996422
218 https://doi.org/10.1038/ng0902-89
219 rdf:type schema:CreativeWork
220 sg:pub.10.1038/ng0997-96 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043997544
221 https://doi.org/10.1038/ng0997-96
222 rdf:type schema:CreativeWork
223 sg:pub.10.1038/ng958 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037655459
224 https://doi.org/10.1038/ng958
225 rdf:type schema:CreativeWork
226 sg:pub.10.1038/nm1097-1155 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040380621
227 https://doi.org/10.1038/nm1097-1155
228 rdf:type schema:CreativeWork
229 sg:pub.10.1038/nrc1011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026716666
230 https://doi.org/10.1038/nrc1011
231 rdf:type schema:CreativeWork
232 sg:pub.10.1038/sj.ejhg.5200181 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046445751
233 https://doi.org/10.1038/sj.ejhg.5200181
234 rdf:type schema:CreativeWork
235 sg:pub.10.1385/criai:20:1:87 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015800980
236 https://doi.org/10.1385/criai:20:1:87
237 rdf:type schema:CreativeWork
238 https://app.dimensions.ai/details/publication/pub.1074896175 schema:CreativeWork
239 https://app.dimensions.ai/details/publication/pub.1077410357 schema:CreativeWork
240 https://app.dimensions.ai/details/publication/pub.1082434155 schema:CreativeWork
241 https://app.dimensions.ai/details/publication/pub.1082434156 schema:CreativeWork
242 https://app.dimensions.ai/details/publication/pub.1082545435 schema:CreativeWork
243 https://app.dimensions.ai/details/publication/pub.1082683256 schema:CreativeWork
244 https://app.dimensions.ai/details/publication/pub.1082898648 schema:CreativeWork
245 https://app.dimensions.ai/details/publication/pub.1082961675 schema:CreativeWork
246 https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<287::aid-ajmg2>3.0.co;2-# schema:sameAs https://app.dimensions.ai/details/publication/pub.1029521560
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1002/(sici)1098-1004(1999)14:2<156::aid-humu7>3.0.co;2-e schema:sameAs https://app.dimensions.ai/details/publication/pub.1001014141
249 rdf:type schema:CreativeWork
250 https://doi.org/10.1002/ajmg.a.20570 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032189705
251 rdf:type schema:CreativeWork
252 https://doi.org/10.1002/humu.10156 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044736269
253 rdf:type schema:CreativeWork
254 https://doi.org/10.1002/humu.10206 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005977050
255 rdf:type schema:CreativeWork
256 https://doi.org/10.1002/humu.10232 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021264390
257 rdf:type schema:CreativeWork
258 https://doi.org/10.1002/humu.10295 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042235622
259 rdf:type schema:CreativeWork
260 https://doi.org/10.1002/humu.20170 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030787068
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1002/humu.9341 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039061467
263 rdf:type schema:CreativeWork
264 https://doi.org/10.1006/mgme.1998.2693 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052760585
265 rdf:type schema:CreativeWork
266 https://doi.org/10.1006/mgme.1999.2942 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007199259
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1006/mgme.2000.2998 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034401261
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1016/j.cell.2004.06.023 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041347993
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1016/j.dnarep.2004.04.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028251797
273 rdf:type schema:CreativeWork
274 https://doi.org/10.1016/j.ymgme.2003.09.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003419575
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1016/s0065-230x(01)83007-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047767510
277 rdf:type schema:CreativeWork
278 https://doi.org/10.1016/s0092-8674(00)80086-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019037417
279 rdf:type schema:CreativeWork
280 https://doi.org/10.1016/s0165-4608(01)00594-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002437958
281 rdf:type schema:CreativeWork
282 https://doi.org/10.1016/s0165-4608(96)00328-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040737731
283 rdf:type schema:CreativeWork
284 https://doi.org/10.1016/s1071-9091(03)00026-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015034677
285 rdf:type schema:CreativeWork
286 https://doi.org/10.1056/nejm198705213162101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028846880
287 rdf:type schema:CreativeWork
288 https://doi.org/10.1056/nejm199112263252602 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013121638
289 rdf:type schema:CreativeWork
290 https://doi.org/10.1067/mpd.2002.123879 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005010183
291 rdf:type schema:CreativeWork
292 https://doi.org/10.1073/pnas.0405155101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035513097
293 rdf:type schema:CreativeWork
294 https://doi.org/10.1080/03014460310001652211 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002808208
295 rdf:type schema:CreativeWork
296 https://doi.org/10.1080/09553002.1994.11772027 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058349315
297 rdf:type schema:CreativeWork
298 https://doi.org/10.1080/09553009414550091 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023463778
299 rdf:type schema:CreativeWork
300 https://doi.org/10.1080/09553009414552011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003615834
301 rdf:type schema:CreativeWork
302 https://doi.org/10.1086/301673 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609283
303 rdf:type schema:CreativeWork
304 https://doi.org/10.1086/301706 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609316
305 rdf:type schema:CreativeWork
306 https://doi.org/10.1086/321296 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058623463
307 rdf:type schema:CreativeWork
308 https://doi.org/10.1089/1066527041410418 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017185537
309 rdf:type schema:CreativeWork
310 https://doi.org/10.1093/hmg/4.11.2025 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059645232
311 rdf:type schema:CreativeWork
312 https://doi.org/10.1093/hmg/5.12.2033 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029595511
313 rdf:type schema:CreativeWork
314 https://doi.org/10.1093/jnci/77.1.89 schema:sameAs https://app.dimensions.ai/details/publication/pub.1079761699
315 rdf:type schema:CreativeWork
316 https://doi.org/10.1093/jnci/94.3.205 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029651125
317 rdf:type schema:CreativeWork
318 https://doi.org/10.1101/gad.10.19.2411 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003425282
319 rdf:type schema:CreativeWork
320 https://doi.org/10.1111/j.1529-8817.2005.00199.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1021870219
321 rdf:type schema:CreativeWork
322 https://doi.org/10.1126/science.7792600 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062649253
323 rdf:type schema:CreativeWork
324 https://doi.org/10.1159/000472231 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083050245
325 rdf:type schema:CreativeWork
326 https://www.grid.ac/institutes/grid.19006.3e schema:alternateName University of California Los Angeles
327 schema:name The David Geffen School of Medicine, Department of Pathology, University of California, 675 Young Drive South, 90095-1732, Los Angeles, CA, USA
328 rdf:type schema:Organization
329 https://www.grid.ac/institutes/grid.416879.5 schema:alternateName Virginia Mason Medical Center
330 schema:name Benaroya Research Institute, 98101, Seattle, WA, USA
331 rdf:type schema:Organization
 




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


...