Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-04-05

AUTHORS

Jan Halbritter, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun, Stefan Kohl, Moumita Chaki, Susan J. Allen, Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto, The GPN Study Group

ABSTRACT

Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only 40 % of all cases. High-throughput mutation screenings of large patient cohorts represent a powerful tool for diagnostics and identification of novel NPHP genes. We here performed a new high-throughput mutation analysis method to study 13 established NPHP genes (NPHP1–NPHP13) in a worldwide cohort of 1,056 patients diagnosed with NPHP-RC. We first applied multiplexed PCR-based amplification using Fluidigm Access-Array™ technology followed by barcoding and next-generation resequencing on an Illumina platform. As a result, we established the molecular diagnosis in 127/1,056 independent individuals (12.0 %) and identified a single heterozygous truncating mutation in an additional 31 individuals (2.9 %). Altogether, we detected 159 different mutations in 11 out of 13 different NPHP genes, 99 of which were novel. Phenotypically most remarkable were two patients with truncating mutations in INVS/NPHP2 who did not present as infants and did not exhibit extrarenal manifestations. In addition, we present the first case of Caroli disease due to mutations in WDR19/NPHP13 and the second case ever with a recessive mutation in GLIS2/NPHP7. This study represents the most comprehensive mutation analysis in NPHP-RC patients, identifying the largest number of novel mutations in a single study worldwide. More... »

PAGES

865-884

References to SciGraph publications

  • 2006-01-15. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome in NATURE GENETICS
  • 2009-08-09. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies in NATURE GENETICS
  • 2003-07-20. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination in NATURE GENETICS
  • 2003-07-20. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis in NATURE GENETICS
  • 2006-05-07. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 in NATURE GENETICS
  • 2010-07-22. Nephronophthisis in PEDIATRIC NEPHROLOGY
  • 2002-09-09. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin in NATURE GENETICS
  • 2005-02-20. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin in NATURE GENETICS
  • 1997-10. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 in NATURE GENETICS
  • 2012-01-15. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium in NATURE GENETICS
  • 2005-12. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? in NATURE REVIEWS GENETICS
  • 2007-07-08. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis in NATURE GENETICS
  • 2011-07-03. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition in NATURE GENETICS
  • 2010-09-12. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy in NATURE GENETICS
  • 2011-01-23. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum in NATURE GENETICS
  • 2010-05-30. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes in NATURE GENETICS
  • 2004-08-22. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome in NATURE GENETICS
  • 2007-06-10. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-013-1297-0

    DOI

    http://dx.doi.org/10.1007/s00439-013-1297-0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1010272773

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23559409


    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/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adaptor Proteins, Signal Transducing", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Caroli Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cilia", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cohort Studies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cytoskeletal Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Mutational Analysis", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genes, Recessive", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Global Health", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "High-Throughput Nucleotide Sequencing", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Kidney Diseases, Cystic", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Membrane Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Multiplex Polymerase Chain Reaction", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pedigree", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pilot Projects", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA", 
              "id": "http://www.grid.ac/institutes/grid.412590.b", 
              "name": [
                "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Halbritter", 
            "givenName": "Jan", 
            "id": "sg:person.0657455645.58", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657455645.58"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA", 
              "id": "http://www.grid.ac/institutes/grid.412590.b", 
              "name": [
                "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Porath", 
            "givenName": "Jonathan D.", 
            "id": "sg:person.0746474212.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746474212.45"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA", 
              "id": "http://www.grid.ac/institutes/grid.412590.b", 
              "name": [
                "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Diaz", 
            "givenName": "Katrina A.", 
            "id": "sg:person.0632245612.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0632245612.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA", 
              "id": "http://www.grid.ac/institutes/grid.412590.b", 
              "name": [
                "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Braun", 
            "givenName": "Daniela A.", 
            "id": "sg:person.01216645073.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216645073.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA", 
              "id": "http://www.grid.ac/institutes/grid.412590.b", 
              "name": [
                "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kohl", 
            "givenName": "Stefan", 
            "id": "sg:person.01115600136.94", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115600136.94"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA", 
              "id": "http://www.grid.ac/institutes/grid.412590.b", 
              "name": [
                "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chaki", 
            "givenName": "Moumita", 
            "id": "sg:person.01172423105.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172423105.52"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA", 
              "id": "http://www.grid.ac/institutes/grid.412590.b", 
              "name": [
                "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Allen", 
            "givenName": "Susan J.", 
            "id": "sg:person.01067555331.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01067555331.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Center of Pediatric Nephrology and Transplantation, Cairo University, Cairo, Egypt", 
                "Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Soliman", 
            "givenName": "Neveen A.", 
            "id": "sg:person.0655602573.56", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0655602573.56"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Howard Hughes Medical Institute, Chevy Chase, MD, USA", 
              "id": "http://www.grid.ac/institutes/grid.413575.1", 
              "name": [
                "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA", 
                "Howard Hughes Medical Institute, Chevy Chase, MD, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hildebrandt", 
            "givenName": "Friedhelm", 
            "id": "sg:person.0755436405.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755436405.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA", 
              "id": "http://www.grid.ac/institutes/grid.412590.b", 
              "name": [
                "Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Otto", 
            "givenName": "Edgar A.", 
            "id": "sg:person.01132775524.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01132775524.84"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "The GPN Study Group", 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng1714", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048674019", 
              "https://doi.org/10.1038/ng1714"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.891", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049709727", 
              "https://doi.org/10.1038/ng.891"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1217", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013292699", 
              "https://doi.org/10.1038/ng1217"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1520", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009268439", 
              "https://doi.org/10.1038/ng1520"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1727", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048662366", 
              "https://doi.org/10.1038/nrg1727"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng996", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036179995", 
              "https://doi.org/10.1038/ng996"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.1078", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010769020", 
              "https://doi.org/10.1038/ng.1078"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.594", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031002347", 
              "https://doi.org/10.1038/ng.594"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.662", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000840464", 
              "https://doi.org/10.1038/ng.662"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng2039", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033385115", 
              "https://doi.org/10.1038/ng2039"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng2072", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039980411", 
              "https://doi.org/10.1038/ng2072"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-010-1585-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041953917", 
              "https://doi.org/10.1007/s00467-010-1585-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1097-149", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029439412", 
              "https://doi.org/10.1038/ng1097-149"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1216", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033849072", 
              "https://doi.org/10.1038/ng1216"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.423", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051487041", 
              "https://doi.org/10.1038/ng.423"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1419", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024557031", 
              "https://doi.org/10.1038/ng1419"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1786", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039313166", 
              "https://doi.org/10.1038/ng1786"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.756", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046869860", 
              "https://doi.org/10.1038/ng.756"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2013-04-05", 
        "datePublishedReg": "2013-04-05", 
        "description": "Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only 40\u00a0% of all cases. High-throughput mutation screenings of large patient cohorts represent a powerful tool for diagnostics and identification of novel NPHP genes. We here performed a new high-throughput mutation analysis method to study 13 established NPHP genes (NPHP1\u2013NPHP13) in a worldwide cohort of 1,056 patients diagnosed with NPHP-RC. We first applied multiplexed PCR-based amplification using Fluidigm Access-Array\u2122 technology followed by barcoding and next-generation resequencing on an Illumina platform. As a result, we established the molecular diagnosis in 127/1,056 independent individuals (12.0\u00a0%) and identified a single heterozygous truncating mutation in an additional 31 individuals (2.9\u00a0%). Altogether, we detected 159 different mutations in 11 out of 13 different NPHP genes, 99 of which were novel. Phenotypically most remarkable were two patients with truncating mutations in INVS/NPHP2 who did not present as infants and did not exhibit extrarenal manifestations. In addition, we present the first case of Caroli disease due to mutations in WDR19/NPHP13 and the second case ever with a recessive mutation in GLIS2/NPHP7. This study represents the most comprehensive mutation analysis in NPHP-RC patients, identifying the largest number of novel mutations in a single study worldwide.", 
        "genre": "article", 
        "id": "sg:pub.10.1007/s00439-013-1297-0", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2669634", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2498393", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1085982", 
            "issn": [
              "0340-6717", 
              "1432-1203"
            ], 
            "name": "Human Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "8", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "132"
          }
        ], 
        "keywords": [
          "worldwide cohort", 
          "truncating mutations", 
          "large patient cohort", 
          "novel mutations", 
          "NPHP genes", 
          "cystic kidney disease", 
          "heterozygous truncating mutations", 
          "nephronophthisis-related ciliopathies", 
          "Caroli's disease", 
          "kidney disease", 
          "patient cohort", 
          "extrarenal manifestations", 
          "patients", 
          "comprehensive mutation analysis", 
          "cohort", 
          "autosomal recessive cystic kidney disease", 
          "molecular diagnosis", 
          "mutation screening", 
          "first case", 
          "single study", 
          "disease", 
          "mutation analysis", 
          "different mutations", 
          "multiplexed PCR", 
          "mutations", 
          "NPHP-RC", 
          "recessive mutations", 
          "Glis2/NPHP7", 
          "high-throughput mutation screening", 
          "second case", 
          "pathogenesis", 
          "infants", 
          "genes", 
          "diagnosis", 
          "individuals", 
          "cases", 
          "ciliopathies", 
          "manifestations", 
          "nephronophthisis", 
          "Fluidigm Access Array", 
          "study", 
          "screening", 
          "NPHP2", 
          "PCR", 
          "mutation analysis method", 
          "identification", 
          "independent individuals", 
          "Illumina platform", 
          "date", 
          "large number", 
          "amplification", 
          "diagnostics", 
          "addition", 
          "number", 
          "analysis", 
          "results", 
          "powerful tool", 
          "tool", 
          "method", 
          "platform", 
          "analysis method", 
          "technology", 
          "barcoding"
        ], 
        "name": "Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy", 
        "pagination": "865-884", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1010272773"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s00439-013-1297-0"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "23559409"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s00439-013-1297-0", 
          "https://app.dimensions.ai/details/publication/pub.1010272773"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-12-01T06:30", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20221201/entities/gbq_results/article/article_593.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1007/s00439-013-1297-0"
      }
    ]
     

    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/s00439-013-1297-0'

    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/s00439-013-1297-0'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-013-1297-0'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-013-1297-0'


     

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

    347 TRIPLES      21 PREDICATES      124 URIs      98 LITERALS      25 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s00439-013-1297-0 schema:about N04ec78aa7cd644b99e9f935682fd77bd
    2 N1b63b3801c024dc1ad0d0d23c3252f3e
    3 N257c1ce788c14a58bd3041b4608ba849
    4 N2f3488dbd091492cbab7bb0d14375623
    5 N3d0879652f3743b693d2001e0dbdb8f2
    6 N5e884d073f764b24bb9f07d1303a6f84
    7 N60f02b1faa394ba7b7dbb8b95992da1d
    8 N674be75badca44dd89e77ae31ff1b330
    9 N687b5ad240d140348ce781b578fb4cb9
    10 N87043e62d8a243e89ce74b2ddab22d14
    11 Na4abf04ee10d4d8b913b31c606ae9768
    12 Nae81c6eb114f4061bc5dd41dea1fd234
    13 Nb1b6bf7f08ba4d6fadaa72d9cc3ecf06
    14 Nce10abdbdb414956b5148e4a6f256f9d
    15 Nd1304d95511a4b8facaa8f36cdbb8014
    16 Nd1dfd9cac01f42df974219d325d69b42
    17 Nd4a4a5d050a14550bb44358e7c13a470
    18 Neda118e3a6a545c289366b562a06fa3c
    19 anzsrc-for:06
    20 anzsrc-for:0604
    21 schema:author N3a60dc37814a455d84796dbfeaba9da9
    22 schema:citation sg:pub.10.1007/s00467-010-1585-z
    23 sg:pub.10.1038/ng.1078
    24 sg:pub.10.1038/ng.423
    25 sg:pub.10.1038/ng.594
    26 sg:pub.10.1038/ng.662
    27 sg:pub.10.1038/ng.756
    28 sg:pub.10.1038/ng.891
    29 sg:pub.10.1038/ng1097-149
    30 sg:pub.10.1038/ng1216
    31 sg:pub.10.1038/ng1217
    32 sg:pub.10.1038/ng1419
    33 sg:pub.10.1038/ng1520
    34 sg:pub.10.1038/ng1714
    35 sg:pub.10.1038/ng1786
    36 sg:pub.10.1038/ng2039
    37 sg:pub.10.1038/ng2072
    38 sg:pub.10.1038/ng996
    39 sg:pub.10.1038/nrg1727
    40 schema:datePublished 2013-04-05
    41 schema:datePublishedReg 2013-04-05
    42 schema:description Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only 40 % of all cases. High-throughput mutation screenings of large patient cohorts represent a powerful tool for diagnostics and identification of novel NPHP genes. We here performed a new high-throughput mutation analysis method to study 13 established NPHP genes (NPHP1–NPHP13) in a worldwide cohort of 1,056 patients diagnosed with NPHP-RC. We first applied multiplexed PCR-based amplification using Fluidigm Access-Array™ technology followed by barcoding and next-generation resequencing on an Illumina platform. As a result, we established the molecular diagnosis in 127/1,056 independent individuals (12.0 %) and identified a single heterozygous truncating mutation in an additional 31 individuals (2.9 %). Altogether, we detected 159 different mutations in 11 out of 13 different NPHP genes, 99 of which were novel. Phenotypically most remarkable were two patients with truncating mutations in INVS/NPHP2 who did not present as infants and did not exhibit extrarenal manifestations. In addition, we present the first case of Caroli disease due to mutations in WDR19/NPHP13 and the second case ever with a recessive mutation in GLIS2/NPHP7. This study represents the most comprehensive mutation analysis in NPHP-RC patients, identifying the largest number of novel mutations in a single study worldwide.
    43 schema:genre article
    44 schema:isAccessibleForFree true
    45 schema:isPartOf N759f00d6008c43f1bc31594a6bf561f0
    46 Nad0dbbffba024cb78ada9d1b1ad8fd3e
    47 sg:journal.1085982
    48 schema:keywords Caroli's disease
    49 Fluidigm Access Array
    50 Glis2/NPHP7
    51 Illumina platform
    52 NPHP genes
    53 NPHP-RC
    54 NPHP2
    55 PCR
    56 addition
    57 amplification
    58 analysis
    59 analysis method
    60 autosomal recessive cystic kidney disease
    61 barcoding
    62 cases
    63 ciliopathies
    64 cohort
    65 comprehensive mutation analysis
    66 cystic kidney disease
    67 date
    68 diagnosis
    69 diagnostics
    70 different mutations
    71 disease
    72 extrarenal manifestations
    73 first case
    74 genes
    75 heterozygous truncating mutations
    76 high-throughput mutation screening
    77 identification
    78 independent individuals
    79 individuals
    80 infants
    81 kidney disease
    82 large number
    83 large patient cohort
    84 manifestations
    85 method
    86 molecular diagnosis
    87 multiplexed PCR
    88 mutation analysis
    89 mutation analysis method
    90 mutation screening
    91 mutations
    92 nephronophthisis
    93 nephronophthisis-related ciliopathies
    94 novel mutations
    95 number
    96 pathogenesis
    97 patient cohort
    98 patients
    99 platform
    100 powerful tool
    101 recessive mutations
    102 results
    103 screening
    104 second case
    105 single study
    106 study
    107 technology
    108 tool
    109 truncating mutations
    110 worldwide cohort
    111 schema:name Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
    112 schema:pagination 865-884
    113 schema:productId N5656b978b12f4ebaa4884f2bf2648a71
    114 N8b219d571f4b47d48f700793f96e70c7
    115 Nc4fd6920d36a4e9f970a01f3b8b56cdc
    116 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010272773
    117 https://doi.org/10.1007/s00439-013-1297-0
    118 schema:sdDatePublished 2022-12-01T06:30
    119 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    120 schema:sdPublisher Nb64a3ad075f34c29af02127edd7656f3
    121 schema:url https://doi.org/10.1007/s00439-013-1297-0
    122 sgo:license sg:explorer/license/
    123 sgo:sdDataset articles
    124 rdf:type schema:ScholarlyArticle
    125 N00f0bafff4134af9b1d61199ca7b835b schema:familyName The GPN Study Group
    126 rdf:type schema:Person
    127 N04ec78aa7cd644b99e9f935682fd77bd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    128 schema:name Genes, Recessive
    129 rdf:type schema:DefinedTerm
    130 N1b63b3801c024dc1ad0d0d23c3252f3e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    131 schema:name Multiplex Polymerase Chain Reaction
    132 rdf:type schema:DefinedTerm
    133 N257c1ce788c14a58bd3041b4608ba849 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    134 schema:name Mutation
    135 rdf:type schema:DefinedTerm
    136 N2f3488dbd091492cbab7bb0d14375623 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    137 schema:name Cilia
    138 rdf:type schema:DefinedTerm
    139 N3a60dc37814a455d84796dbfeaba9da9 rdf:first sg:person.0657455645.58
    140 rdf:rest Nba3bc61ba22845319ede64d46e01b093
    141 N3d0879652f3743b693d2001e0dbdb8f2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    142 schema:name Cytoskeletal Proteins
    143 rdf:type schema:DefinedTerm
    144 N5656b978b12f4ebaa4884f2bf2648a71 schema:name pubmed_id
    145 schema:value 23559409
    146 rdf:type schema:PropertyValue
    147 N5e884d073f764b24bb9f07d1303a6f84 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    148 schema:name Humans
    149 rdf:type schema:DefinedTerm
    150 N60f02b1faa394ba7b7dbb8b95992da1d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    151 schema:name Global Health
    152 rdf:type schema:DefinedTerm
    153 N674be75badca44dd89e77ae31ff1b330 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    154 schema:name Pilot Projects
    155 rdf:type schema:DefinedTerm
    156 N687b5ad240d140348ce781b578fb4cb9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    157 schema:name Pedigree
    158 rdf:type schema:DefinedTerm
    159 N759f00d6008c43f1bc31594a6bf561f0 schema:issueNumber 8
    160 rdf:type schema:PublicationIssue
    161 N76db691f31c8495d9477bd1fa7b8e73f rdf:first sg:person.01067555331.84
    162 rdf:rest Nb6b7c1afe27640b5aabe6a89a3029628
    163 N7dcd5fa41c0f4783baa6d55a3b964fc2 rdf:first N00f0bafff4134af9b1d61199ca7b835b
    164 rdf:rest rdf:nil
    165 N87043e62d8a243e89ce74b2ddab22d14 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    166 schema:name Caroli Disease
    167 rdf:type schema:DefinedTerm
    168 N8b219d571f4b47d48f700793f96e70c7 schema:name dimensions_id
    169 schema:value pub.1010272773
    170 rdf:type schema:PropertyValue
    171 Na0f2dfff37fa492a9abf465084d5eb96 rdf:first sg:person.01115600136.94
    172 rdf:rest Ne3c3ae014e934c329a78e7dd5c3d7d25
    173 Na4abf04ee10d4d8b913b31c606ae9768 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    174 schema:name Male
    175 rdf:type schema:DefinedTerm
    176 Na4e700ce74974e2793e23cd47e8cd5cd rdf:first sg:person.01132775524.84
    177 rdf:rest N7dcd5fa41c0f4783baa6d55a3b964fc2
    178 Nad0dbbffba024cb78ada9d1b1ad8fd3e schema:volumeNumber 132
    179 rdf:type schema:PublicationVolume
    180 Nae81c6eb114f4061bc5dd41dea1fd234 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    181 schema:name Kidney Diseases, Cystic
    182 rdf:type schema:DefinedTerm
    183 Nb194c622585b4917b3b0a71c0967df09 rdf:first sg:person.0632245612.07
    184 rdf:rest Nccfd712e95e04bcd9c50c49152b7b1cc
    185 Nb1b6bf7f08ba4d6fadaa72d9cc3ecf06 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    186 schema:name Adaptor Proteins, Signal Transducing
    187 rdf:type schema:DefinedTerm
    188 Nb64a3ad075f34c29af02127edd7656f3 schema:name Springer Nature - SN SciGraph project
    189 rdf:type schema:Organization
    190 Nb6b7c1afe27640b5aabe6a89a3029628 rdf:first sg:person.0655602573.56
    191 rdf:rest Nd1a077f61e8a415e99646227c068bc4f
    192 Nba3bc61ba22845319ede64d46e01b093 rdf:first sg:person.0746474212.45
    193 rdf:rest Nb194c622585b4917b3b0a71c0967df09
    194 Nc4fd6920d36a4e9f970a01f3b8b56cdc schema:name doi
    195 schema:value 10.1007/s00439-013-1297-0
    196 rdf:type schema:PropertyValue
    197 Nccfd712e95e04bcd9c50c49152b7b1cc rdf:first sg:person.01216645073.01
    198 rdf:rest Na0f2dfff37fa492a9abf465084d5eb96
    199 Nce10abdbdb414956b5148e4a6f256f9d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    200 schema:name DNA Mutational Analysis
    201 rdf:type schema:DefinedTerm
    202 Nd1304d95511a4b8facaa8f36cdbb8014 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    203 schema:name Membrane Proteins
    204 rdf:type schema:DefinedTerm
    205 Nd1a077f61e8a415e99646227c068bc4f rdf:first sg:person.0755436405.55
    206 rdf:rest Na4e700ce74974e2793e23cd47e8cd5cd
    207 Nd1dfd9cac01f42df974219d325d69b42 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    208 schema:name High-Throughput Nucleotide Sequencing
    209 rdf:type schema:DefinedTerm
    210 Nd4a4a5d050a14550bb44358e7c13a470 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    211 schema:name Cohort Studies
    212 rdf:type schema:DefinedTerm
    213 Ne3c3ae014e934c329a78e7dd5c3d7d25 rdf:first sg:person.01172423105.52
    214 rdf:rest N76db691f31c8495d9477bd1fa7b8e73f
    215 Neda118e3a6a545c289366b562a06fa3c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    216 schema:name Female
    217 rdf:type schema:DefinedTerm
    218 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    219 schema:name Biological Sciences
    220 rdf:type schema:DefinedTerm
    221 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    222 schema:name Genetics
    223 rdf:type schema:DefinedTerm
    224 sg:grant.2498393 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-013-1297-0
    225 rdf:type schema:MonetaryGrant
    226 sg:grant.2669634 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-013-1297-0
    227 rdf:type schema:MonetaryGrant
    228 sg:journal.1085982 schema:issn 0340-6717
    229 1432-1203
    230 schema:name Human Genetics
    231 schema:publisher Springer Nature
    232 rdf:type schema:Periodical
    233 sg:person.01067555331.84 schema:affiliation grid-institutes:grid.412590.b
    234 schema:familyName Allen
    235 schema:givenName Susan J.
    236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01067555331.84
    237 rdf:type schema:Person
    238 sg:person.01115600136.94 schema:affiliation grid-institutes:grid.412590.b
    239 schema:familyName Kohl
    240 schema:givenName Stefan
    241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115600136.94
    242 rdf:type schema:Person
    243 sg:person.01132775524.84 schema:affiliation grid-institutes:grid.412590.b
    244 schema:familyName Otto
    245 schema:givenName Edgar A.
    246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01132775524.84
    247 rdf:type schema:Person
    248 sg:person.01172423105.52 schema:affiliation grid-institutes:grid.412590.b
    249 schema:familyName Chaki
    250 schema:givenName Moumita
    251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172423105.52
    252 rdf:type schema:Person
    253 sg:person.01216645073.01 schema:affiliation grid-institutes:grid.412590.b
    254 schema:familyName Braun
    255 schema:givenName Daniela A.
    256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216645073.01
    257 rdf:type schema:Person
    258 sg:person.0632245612.07 schema:affiliation grid-institutes:grid.412590.b
    259 schema:familyName Diaz
    260 schema:givenName Katrina A.
    261 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0632245612.07
    262 rdf:type schema:Person
    263 sg:person.0655602573.56 schema:affiliation grid-institutes:None
    264 schema:familyName Soliman
    265 schema:givenName Neveen A.
    266 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0655602573.56
    267 rdf:type schema:Person
    268 sg:person.0657455645.58 schema:affiliation grid-institutes:grid.412590.b
    269 schema:familyName Halbritter
    270 schema:givenName Jan
    271 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657455645.58
    272 rdf:type schema:Person
    273 sg:person.0746474212.45 schema:affiliation grid-institutes:grid.412590.b
    274 schema:familyName Porath
    275 schema:givenName Jonathan D.
    276 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746474212.45
    277 rdf:type schema:Person
    278 sg:person.0755436405.55 schema:affiliation grid-institutes:grid.413575.1
    279 schema:familyName Hildebrandt
    280 schema:givenName Friedhelm
    281 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755436405.55
    282 rdf:type schema:Person
    283 sg:pub.10.1007/s00467-010-1585-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1041953917
    284 https://doi.org/10.1007/s00467-010-1585-z
    285 rdf:type schema:CreativeWork
    286 sg:pub.10.1038/ng.1078 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010769020
    287 https://doi.org/10.1038/ng.1078
    288 rdf:type schema:CreativeWork
    289 sg:pub.10.1038/ng.423 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051487041
    290 https://doi.org/10.1038/ng.423
    291 rdf:type schema:CreativeWork
    292 sg:pub.10.1038/ng.594 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031002347
    293 https://doi.org/10.1038/ng.594
    294 rdf:type schema:CreativeWork
    295 sg:pub.10.1038/ng.662 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000840464
    296 https://doi.org/10.1038/ng.662
    297 rdf:type schema:CreativeWork
    298 sg:pub.10.1038/ng.756 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046869860
    299 https://doi.org/10.1038/ng.756
    300 rdf:type schema:CreativeWork
    301 sg:pub.10.1038/ng.891 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049709727
    302 https://doi.org/10.1038/ng.891
    303 rdf:type schema:CreativeWork
    304 sg:pub.10.1038/ng1097-149 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029439412
    305 https://doi.org/10.1038/ng1097-149
    306 rdf:type schema:CreativeWork
    307 sg:pub.10.1038/ng1216 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033849072
    308 https://doi.org/10.1038/ng1216
    309 rdf:type schema:CreativeWork
    310 sg:pub.10.1038/ng1217 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013292699
    311 https://doi.org/10.1038/ng1217
    312 rdf:type schema:CreativeWork
    313 sg:pub.10.1038/ng1419 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024557031
    314 https://doi.org/10.1038/ng1419
    315 rdf:type schema:CreativeWork
    316 sg:pub.10.1038/ng1520 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009268439
    317 https://doi.org/10.1038/ng1520
    318 rdf:type schema:CreativeWork
    319 sg:pub.10.1038/ng1714 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048674019
    320 https://doi.org/10.1038/ng1714
    321 rdf:type schema:CreativeWork
    322 sg:pub.10.1038/ng1786 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039313166
    323 https://doi.org/10.1038/ng1786
    324 rdf:type schema:CreativeWork
    325 sg:pub.10.1038/ng2039 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033385115
    326 https://doi.org/10.1038/ng2039
    327 rdf:type schema:CreativeWork
    328 sg:pub.10.1038/ng2072 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039980411
    329 https://doi.org/10.1038/ng2072
    330 rdf:type schema:CreativeWork
    331 sg:pub.10.1038/ng996 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036179995
    332 https://doi.org/10.1038/ng996
    333 rdf:type schema:CreativeWork
    334 sg:pub.10.1038/nrg1727 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048662366
    335 https://doi.org/10.1038/nrg1727
    336 rdf:type schema:CreativeWork
    337 grid-institutes:None schema:alternateName Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt
    338 schema:name Center of Pediatric Nephrology and Transplantation, Cairo University, Cairo, Egypt
    339 Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt
    340 rdf:type schema:Organization
    341 grid-institutes:grid.412590.b schema:alternateName Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA
    342 schema:name Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA
    343 rdf:type schema:Organization
    344 grid-institutes:grid.413575.1 schema:alternateName Howard Hughes Medical Institute, Chevy Chase, MD, USA
    345 schema:name Department of Pediatrics, University of Michigan Health System, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann Arbor, MI, USA
    346 Howard Hughes Medical Institute, Chevy Chase, MD, USA
    347 rdf:type schema:Organization
     




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


    ...