Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2000-08

AUTHORS

Bruno Saint-Jore, Mathilde Varret, Christiane Dachet, Jean-Pierre Rabès, Martine Devillers, Danielle Erlich, Patricia Blanchard, Michel Krempf, Denis Mathé, Bernard Chanu, Bernard Jacotot, Michel Farnier, Catherine Bonaïti-Péllié, Claudine Junien, Catherine Boileau

ABSTRACT

Autosomal dominant type IIa hypercholesterolaemia (ADH) is characterised by an elevation of total plasma cholesterol associated with increased LDL particles. Numerous different molecular defects have been identified in the LDL receptor (LDLR) and few specific mutations in the apolipoprotein B (APOB) gene resulting in familial hypercholesterolaemia and familial defective apoB-100 respectively. To estimate the respective contribution of LDLR, APOB and other gene defects in this disease, we studied 33 well characterised French families diagnosed over at least three generations with ADH through the candidate gene approach. An estimation of the proportions performed with the HOMOG3R program showed that an LDLR gene defect was involved in approximately 50% of the families (P = 0.001). On the other hand, the estimated contribution of an APOB gene defect was only 15%. This low estimation of ADH due to an APOB gene defect is further strengthened by the existence of only two probands carrying the APOB (R3500Q) mutation in the sample. More importantly and surprisingly, 35% of the families in the sample were estimated to be linked to neither LDLR nor APOB genes. These data were confirmed by the exclusion of both genes through direct haplotyping in three families. Our results demonstrate that the relative contributions of LDLR and APOB gene defects to the disease are very different. Furthermore, our results also show that genetic heterogeneity is, generally, underestimated in ADH, and that at least three major groups of defects are involved. At this point, the contribution of the recently mapped FH3 gene to ADH cannot be assessed nor its importance in the group of 'non LDLR/non APOB' families. More... »

PAGES

621

Journal

TITLE

European Journal of Human Genetics

ISSUE

8

VOLUME

8

Related Patents

  • Precision Medicine By Targeting Pd-L1 Variants For Treatment Of Cancer
  • Precision Medicine By Targeting Human Nav1.9 Variants For Treatment Of Pain
  • Methods Of Treating Anaemia
  • Targeting Rare Human Pcsk9 Variants For Cholesterol Treatment
  • Precision Medicine By Targeting Rare Human Pcsk9 Variants For Cholesterol Treatment
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Targeting Rare Human Pcsk9 Variants For Cholesterol Treatment
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Targeting Rare Human Pcsk9 Variants For Cholesterol Treatment
  • Targeting Pd-1 Variants For Treatment Of Cancer
  • Methods Of Using Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Method Of Treating Atopic Dermatitis Or Asthma Using Antibody To Il4ra
  • Precision Medicine By Targeting Pd-L1 Variants For Treatment Of Cancer
  • Targeting Rare Human Pcsk9 Variants For Cholesterol Treatment
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Precision Medicine By Targeting Vegf-A Variants For Treatment Of Retinopathy
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Monoclonal Antibodies To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Targeting Human Nav1.7 Variants For Treatment Of Pain
  • Method Of Treating Rheumatoid Arthritis Using Antibody To Il6r
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Method Of Treating Atopic Dermatitis Or Asthma Using Antibody To Il4ra
  • Methods Of Treating Anaemia
  • Precision Medicine By Targeting Human Nav1.8 Variants For Treatment Of Pain
  • Precision Medicine For Cholesterol Treatment
  • Precision Medicine By Targeting Rare Human Pcsk9 Variants For Cholesterol Treatment
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Methods Of Treating Anaemia
  • Targeting Rare Human Pcsk9 Variants For Cholesterol Treatment
  • Targeting Human Nav1.7 Variants For Treatment Of Pain
  • Targeting Rare Human Pcsk9 Variants For Cholesterol Treatment
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Methods Of Treating Anaemia
  • Precision Medicine By Targeting Rare Human Pcsk9 Variants For Cholesterol Treatment
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Antigen Binding Proteins To Proprotein Convertase Subtilisin Kexin Type 9 (Pcsk9)
  • Methods For Treating Anaemia
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200516

    DOI

    http://dx.doi.org/10.1038/sj.ejhg.5200516

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1003706951

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/10952765


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

    JSON-LD is the canonical representation for SciGraph data.

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

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Apolipoproteins B", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cholesterol, LDL", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosome Mapping", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosomes, Human, Pair 1", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Heterogeneity", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Linkage", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Haplotypes", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Hyperlipoproteinemia Type II", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Lod Score", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mathematical Computing", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Microsatellite Repeats", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pedigree", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Receptors, LDL", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, DNA", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Triglycerides", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411439.a", 
              "name": [
                "INSERM\u00a0U383, Universit\u00e9 R\u00e9n\u00e9 Descartes, Paris V, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Present address: INSERM\u00a0U321, H\u00f4pital Piti\u00e9-Salp\u00e9tri\u00e8re, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Saint-Jore", 
            "givenName": "Bruno", 
            "id": "sg:person.01033224173.87", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033224173.87"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "INSERM\u00a0U383, Universit\u00e9 R\u00e9n\u00e9 Descartes, Paris V, H\u00f4pital Necker-Enfants Malades, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Varret", 
            "givenName": "Mathilde", 
            "id": "sg:person.01265537703.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265537703.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "INSERM\u00a0U383, Universit\u00e9 R\u00e9n\u00e9 Descartes, Paris V, H\u00f4pital Necker-Enfants Malades, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dachet", 
            "givenName": "Christiane", 
            "id": "sg:person.0746744756.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746744756.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "INSERM\u00a0U383, Universit\u00e9 R\u00e9n\u00e9 Descartes, Paris V, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Laboratoire de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Ambroise Par\u00e9 AP-HE, Boulogne, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rab\u00e8s", 
            "givenName": "Jean-Pierre", 
            "id": "sg:person.01212421615.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212421615.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "INSERM\u00a0U383, Universit\u00e9 R\u00e9n\u00e9 Descartes, Paris V, H\u00f4pital Necker-Enfants Malades, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Devillers", 
            "givenName": "Martine", 
            "id": "sg:person.01004762662.79", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004762662.79"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Service de Biochimie, CHU Saint-Louis, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Erlich", 
            "givenName": "Danielle", 
            "id": "sg:person.07703761724.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07703761724.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Nantes", 
              "id": "https://www.grid.ac/institutes/grid.277151.7", 
              "name": [
                "Service d'Endocrinologie, CHU Hotel Dieu, Nantes, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Blanchard", 
            "givenName": "Patricia", 
            "id": "sg:person.0704510060.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0704510060.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Nantes", 
              "id": "https://www.grid.ac/institutes/grid.277151.7", 
              "name": [
                "Service d'Endocrinologie, CHU Hotel Dieu, Nantes, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Krempf", 
            "givenName": "Michel", 
            "id": "sg:person.060332142.23", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.060332142.23"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Service de M\u00e9decine Interne, CHU Henry Mondor, Cr\u00e9teil, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Math\u00e9", 
            "givenName": "Denis", 
            "id": "sg:person.01271273776.81", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271273776.81"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Service de M\u00e9decine Interne, CHU Henry Mondor, Cr\u00e9teil, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chanu", 
            "givenName": "Bernard", 
            "id": "sg:person.01160364045.19", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160364045.19"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Service de M\u00e9decine Interne, CHU Henry Mondor, Cr\u00e9teil, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jacotot", 
            "givenName": "Bernard", 
            "id": "sg:person.01340247124.19", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340247124.19"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Point M\u00e9dical, Dijon, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Farnier", 
            "givenName": "Michel", 
            "id": "sg:person.01207227363.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207227363.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institut Gustave Roussy", 
              "id": "https://www.grid.ac/institutes/grid.14925.3b", 
              "name": [
                "INSERM\u00a0U351, Institut Gustave Roussy, Villejuif, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bona\u00efti-P\u00e9lli\u00e9", 
            "givenName": "Catherine", 
            "id": "sg:person.0106217563.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0106217563.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "INSERM\u00a0U383, Universit\u00e9 R\u00e9n\u00e9 Descartes, Paris V, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Laboratoire de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Ambroise Par\u00e9 AP-HE, Boulogne, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Junien", 
            "givenName": "Claudine", 
            "id": "sg:person.0662333417.33", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662333417.33"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "INSERM\u00a0U383, Universit\u00e9 R\u00e9n\u00e9 Descartes, Paris V, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Laboratoire de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Ambroise Par\u00e9 AP-HE, Boulogne, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Boileau", 
            "givenName": "Catherine", 
            "id": "sg:person.0730446617.65", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730446617.65"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng1295-422", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002089351", 
              "https://doi.org/10.1038/ng1295-422"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.1380020216", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002291077"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.1380020216", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002291077"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0888-7543(92)90364-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002364232"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0092-8674(84)90188-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002502298"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/01.atv.19.3.802", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003565498"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0021-9150(91)90053-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004312199"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.1380010411", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005485704"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.1380010411", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005485704"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0022-3476(74)80506-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010439428"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0021-9150(90)90031-d", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012096071"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0021-9150(90)90031-d", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012096071"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/17.10.4003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023532353"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci107332", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025707566"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0002-9149(93)90155-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028355962"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.81.11.3443", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029141151"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci114531", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029801903"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0888-7543(90)90282-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041091076"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci114212", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042908905"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.84.19.6919", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043060575"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.82.24.8567", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043511975"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci112729", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044020669"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.86.1.212", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046341985"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00422946", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047545783", 
              "https://doi.org/10.1007/bf00422946"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm199805283382203", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047556181"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci117772", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049356326"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/302370", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058609947"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/01.atv.15.8.1025", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1063334070"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/01.atv.17.11.3092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1063334535"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2000-08", 
        "datePublishedReg": "2000-08-01", 
        "description": "Autosomal dominant type IIa hypercholesterolaemia (ADH) is characterised by an elevation of total plasma cholesterol associated with increased LDL particles. Numerous different molecular defects have been identified in the LDL receptor (LDLR) and few specific mutations in the apolipoprotein B (APOB) gene resulting in familial hypercholesterolaemia and familial defective apoB-100 respectively. To estimate the respective contribution of LDLR, APOB and other gene defects in this disease, we studied 33 well characterised French families diagnosed over at least three generations with ADH through the candidate gene approach. An estimation of the proportions performed with the HOMOG3R program showed that an LDLR gene defect was involved in approximately 50% of the families (P = 0.001). On the other hand, the estimated contribution of an APOB gene defect was only 15%. This low estimation of ADH due to an APOB gene defect is further strengthened by the existence of only two probands carrying the APOB (R3500Q) mutation in the sample. More importantly and surprisingly, 35% of the families in the sample were estimated to be linked to neither LDLR nor APOB genes. These data were confirmed by the exclusion of both genes through direct haplotyping in three families. Our results demonstrate that the relative contributions of LDLR and APOB gene defects to the disease are very different. Furthermore, our results also show that genetic heterogeneity is, generally, underestimated in ADH, and that at least three major groups of defects are involved. At this point, the contribution of the recently mapped FH3 gene to ADH cannot be assessed nor its importance in the group of 'non LDLR/non APOB' families.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/sj.ejhg.5200516", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1103410", 
            "issn": [
              "1018-4813", 
              "1476-5438"
            ], 
            "name": "European Journal of Human Genetics", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "8", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "8"
          }
        ], 
        "name": "Autosomal dominant type\u00a0IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects", 
        "pagination": "621", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "11a88d0fd1e50dfa79693d6a20ea183eebe5fba6fec876b9122e04a60d5f3984"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "10952765"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "9302235"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/sj.ejhg.5200516"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1003706951"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/sj.ejhg.5200516", 
          "https://app.dimensions.ai/details/publication/pub.1003706951"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T11:55", 
        "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/v90/0000000359_0000000359/records_29207_00000000.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://www.nature.com/articles/5200516"
      }
    ]
     

    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.10.1038/sj.ejhg.5200516'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200516'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200516'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200516'


     

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

    351 TRIPLES      21 PREDICATES      73 URIs      39 LITERALS      27 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/sj.ejhg.5200516 schema:about N004660203e1d446f99885bbe92df7413
    2 N2709fb05178744d7963abd0a941be115
    3 N2f24b40300064818885a70a74f6ca87e
    4 N389c993d5398424982b17a6f6d780643
    5 N4b13e21a2a6c42b3a7e9ab0ca9178f77
    6 N51847cf65f6b46089855896ef4630ed3
    7 N758619a0ca5f43fb917a3a2450051f0b
    8 N803f65df1da34b809679735102606d75
    9 N812d94bbb147497594a5a2f6067a3fef
    10 N8cdf90efea1f4a47a1a1217e954a7dea
    11 N9acffd287e4144c78159cfac0cc165be
    12 N9e1388cf6c5d447faab6a7dff3101ea9
    13 Na224255181a74d5cbc1582b25e121500
    14 Na324bb68880a4912b0946e9226ffc5d4
    15 Nae4646b8347f480fbf186a0fe7c37ce3
    16 Naf73a792820144519f3d7301f8499946
    17 Ndb42316994b54c79a79ab6ec14bbbf27
    18 Nedef460a228c44bf9c6070fdc739a5e1
    19 anzsrc-for:06
    20 anzsrc-for:0604
    21 schema:author Nb0f0c190ad48466ca31668c45960fbd4
    22 schema:citation sg:pub.10.1007/bf00422946
    23 sg:pub.10.1038/ng1295-422
    24 https://doi.org/10.1002/humu.1380010411
    25 https://doi.org/10.1002/humu.1380020216
    26 https://doi.org/10.1016/0002-9149(93)90155-6
    27 https://doi.org/10.1016/0021-9150(90)90031-d
    28 https://doi.org/10.1016/0021-9150(91)90053-6
    29 https://doi.org/10.1016/0092-8674(84)90188-0
    30 https://doi.org/10.1016/0888-7543(90)90282-y
    31 https://doi.org/10.1016/0888-7543(92)90364-x
    32 https://doi.org/10.1016/s0022-3476(74)80506-8
    33 https://doi.org/10.1056/nejm199805283382203
    34 https://doi.org/10.1073/pnas.81.11.3443
    35 https://doi.org/10.1073/pnas.82.24.8567
    36 https://doi.org/10.1073/pnas.84.19.6919
    37 https://doi.org/10.1073/pnas.86.1.212
    38 https://doi.org/10.1086/302370
    39 https://doi.org/10.1093/nar/17.10.4003
    40 https://doi.org/10.1161/01.atv.15.8.1025
    41 https://doi.org/10.1161/01.atv.17.11.3092
    42 https://doi.org/10.1161/01.atv.19.3.802
    43 https://doi.org/10.1172/jci107332
    44 https://doi.org/10.1172/jci112729
    45 https://doi.org/10.1172/jci114212
    46 https://doi.org/10.1172/jci114531
    47 https://doi.org/10.1172/jci117772
    48 schema:datePublished 2000-08
    49 schema:datePublishedReg 2000-08-01
    50 schema:description Autosomal dominant type IIa hypercholesterolaemia (ADH) is characterised by an elevation of total plasma cholesterol associated with increased LDL particles. Numerous different molecular defects have been identified in the LDL receptor (LDLR) and few specific mutations in the apolipoprotein B (APOB) gene resulting in familial hypercholesterolaemia and familial defective apoB-100 respectively. To estimate the respective contribution of LDLR, APOB and other gene defects in this disease, we studied 33 well characterised French families diagnosed over at least three generations with ADH through the candidate gene approach. An estimation of the proportions performed with the HOMOG3R program showed that an LDLR gene defect was involved in approximately 50% of the families (P = 0.001). On the other hand, the estimated contribution of an APOB gene defect was only 15%. This low estimation of ADH due to an APOB gene defect is further strengthened by the existence of only two probands carrying the APOB (R3500Q) mutation in the sample. More importantly and surprisingly, 35% of the families in the sample were estimated to be linked to neither LDLR nor APOB genes. These data were confirmed by the exclusion of both genes through direct haplotyping in three families. Our results demonstrate that the relative contributions of LDLR and APOB gene defects to the disease are very different. Furthermore, our results also show that genetic heterogeneity is, generally, underestimated in ADH, and that at least three major groups of defects are involved. At this point, the contribution of the recently mapped FH3 gene to ADH cannot be assessed nor its importance in the group of 'non LDLR/non APOB' families.
    51 schema:genre research_article
    52 schema:inLanguage en
    53 schema:isAccessibleForFree true
    54 schema:isPartOf N0eee9de9ae324f50924b308658efefff
    55 N3440702083cd40b1aab07e265b833a3d
    56 sg:journal.1103410
    57 schema:name Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects
    58 schema:pagination 621
    59 schema:productId N0d4e52a9a8ed4212a0886d00cf6cb089
    60 N820b4236057740e7a0c8cadaab4dbbee
    61 N8e6471a94ff844999fbaf0925e4eaea7
    62 N925a96c3708a4dc2a619db4fc286bfdb
    63 Nc4c34c36a36e43fe9fb897cebb8f8216
    64 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003706951
    65 https://doi.org/10.1038/sj.ejhg.5200516
    66 schema:sdDatePublished 2019-04-11T11:55
    67 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    68 schema:sdPublisher Nb8b388ab567840f9805ad2c6837db677
    69 schema:url https://www.nature.com/articles/5200516
    70 sgo:license sg:explorer/license/
    71 sgo:sdDataset articles
    72 rdf:type schema:ScholarlyArticle
    73 N004660203e1d446f99885bbe92df7413 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    74 schema:name Triglycerides
    75 rdf:type schema:DefinedTerm
    76 N045b46d4c4714b5686cea0226d53f251 schema:name Service de Médecine Interne, CHU Henry Mondor, Créteil, France
    77 rdf:type schema:Organization
    78 N04c4854972a94c6b99b400264601a80d schema:name Service de Médecine Interne, CHU Henry Mondor, Créteil, France
    79 rdf:type schema:Organization
    80 N095816e276534e82aa2a6dfc32627c6c rdf:first sg:person.01160364045.19
    81 rdf:rest N8aa6669e98964939b776b034cc0f5641
    82 N0a8238ad3fc04e0e925500b4f2a7974d schema:name INSERM U383, Université Réné Descartes, Paris V, Hôpital Necker-Enfants Malades, Paris, France
    83 rdf:type schema:Organization
    84 N0d4e52a9a8ed4212a0886d00cf6cb089 schema:name readcube_id
    85 schema:value 11a88d0fd1e50dfa79693d6a20ea183eebe5fba6fec876b9122e04a60d5f3984
    86 rdf:type schema:PropertyValue
    87 N0d5fe293b1f8440e93288878dd62eee1 rdf:first sg:person.0730446617.65
    88 rdf:rest rdf:nil
    89 N0e268ae91a97456293b180e03f470b87 schema:name INSERM U383, Université Réné Descartes, Paris V, Hôpital Necker-Enfants Malades, Paris, France
    90 Laboratoire de Biochimie et de Génétique Moléculaire, CHU Ambroise Paré AP-HE, Boulogne, France
    91 rdf:type schema:Organization
    92 N0eee9de9ae324f50924b308658efefff schema:issueNumber 8
    93 rdf:type schema:PublicationIssue
    94 N2709fb05178744d7963abd0a941be115 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    95 schema:name Humans
    96 rdf:type schema:DefinedTerm
    97 N2f24b40300064818885a70a74f6ca87e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    98 schema:name Chromosomes, Human, Pair 1
    99 rdf:type schema:DefinedTerm
    100 N302fd5a651564da7a5e863fd2982c3f7 rdf:first sg:person.0704510060.46
    101 rdf:rest Ncc6b8c4705be4a54add68c1b16b72a2f
    102 N3440702083cd40b1aab07e265b833a3d schema:volumeNumber 8
    103 rdf:type schema:PublicationVolume
    104 N389c993d5398424982b17a6f6d780643 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    105 schema:name Female
    106 rdf:type schema:DefinedTerm
    107 N40afe3f43f4d46daab956ad1cc47435a rdf:first sg:person.01265537703.42
    108 rdf:rest N5f35fa31e84e4787a73919358bf3f820
    109 N4b13e21a2a6c42b3a7e9ab0ca9178f77 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    110 schema:name Haplotypes
    111 rdf:type schema:DefinedTerm
    112 N51847cf65f6b46089855896ef4630ed3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    113 schema:name Microsatellite Repeats
    114 rdf:type schema:DefinedTerm
    115 N5cad92d579a64f36a3557b5d03e5392d rdf:first sg:person.0662333417.33
    116 rdf:rest N0d5fe293b1f8440e93288878dd62eee1
    117 N5f35fa31e84e4787a73919358bf3f820 rdf:first sg:person.0746744756.15
    118 rdf:rest N85e500e4a76e4ad7abe9f5e467cf1f1b
    119 N758619a0ca5f43fb917a3a2450051f0b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    120 schema:name Pedigree
    121 rdf:type schema:DefinedTerm
    122 N803f65df1da34b809679735102606d75 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    123 schema:name Receptors, LDL
    124 rdf:type schema:DefinedTerm
    125 N812d94bbb147497594a5a2f6067a3fef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    126 schema:name Lod Score
    127 rdf:type schema:DefinedTerm
    128 N820b4236057740e7a0c8cadaab4dbbee schema:name dimensions_id
    129 schema:value pub.1003706951
    130 rdf:type schema:PropertyValue
    131 N85e500e4a76e4ad7abe9f5e467cf1f1b rdf:first sg:person.01212421615.25
    132 rdf:rest N94cc7997758c4fbe86bc3a8d0660e24c
    133 N8aa6669e98964939b776b034cc0f5641 rdf:first sg:person.01340247124.19
    134 rdf:rest Nb5e2cc75c55843bb99fb44180823f5d4
    135 N8cdf90efea1f4a47a1a1217e954a7dea schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    136 schema:name Genetic Heterogeneity
    137 rdf:type schema:DefinedTerm
    138 N8e6471a94ff844999fbaf0925e4eaea7 schema:name pubmed_id
    139 schema:value 10952765
    140 rdf:type schema:PropertyValue
    141 N925a96c3708a4dc2a619db4fc286bfdb schema:name nlm_unique_id
    142 schema:value 9302235
    143 rdf:type schema:PropertyValue
    144 N94cc7997758c4fbe86bc3a8d0660e24c rdf:first sg:person.01004762662.79
    145 rdf:rest Nd6255288b67b41c18784e2a9261695b1
    146 N99c405ac4a854e6a9d66e70fc9a6db42 schema:name INSERM U383, Université Réné Descartes, Paris V, Hôpital Necker-Enfants Malades, Paris, France
    147 rdf:type schema:Organization
    148 N9acffd287e4144c78159cfac0cc165be schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    149 schema:name Sequence Analysis, DNA
    150 rdf:type schema:DefinedTerm
    151 N9e1388cf6c5d447faab6a7dff3101ea9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    152 schema:name Cholesterol, LDL
    153 rdf:type schema:DefinedTerm
    154 Na224255181a74d5cbc1582b25e121500 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    155 schema:name Male
    156 rdf:type schema:DefinedTerm
    157 Na324bb68880a4912b0946e9226ffc5d4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    158 schema:name Hyperlipoproteinemia Type II
    159 rdf:type schema:DefinedTerm
    160 Na44fba28e4384963ba985e44e76a2001 rdf:first sg:person.01271273776.81
    161 rdf:rest N095816e276534e82aa2a6dfc32627c6c
    162 Nae4646b8347f480fbf186a0fe7c37ce3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    163 schema:name Apolipoproteins B
    164 rdf:type schema:DefinedTerm
    165 Naf3111d32b894d74ab57346de186d8b5 schema:name INSERM U383, Université Réné Descartes, Paris V, Hôpital Necker-Enfants Malades, Paris, France
    166 Laboratoire de Biochimie et de Génétique Moléculaire, CHU Ambroise Paré AP-HE, Boulogne, France
    167 rdf:type schema:Organization
    168 Naf73a792820144519f3d7301f8499946 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    169 schema:name Genetic Linkage
    170 rdf:type schema:DefinedTerm
    171 Nb0f0c190ad48466ca31668c45960fbd4 rdf:first sg:person.01033224173.87
    172 rdf:rest N40afe3f43f4d46daab956ad1cc47435a
    173 Nb5e2cc75c55843bb99fb44180823f5d4 rdf:first sg:person.01207227363.31
    174 rdf:rest Nf011efacf4b347d9929100c3be5f0c57
    175 Nb8b388ab567840f9805ad2c6837db677 schema:name Springer Nature - SN SciGraph project
    176 rdf:type schema:Organization
    177 Nbd34d2cca8e84c63ad1d798fc20ec488 schema:name Service de Médecine Interne, CHU Henry Mondor, Créteil, France
    178 rdf:type schema:Organization
    179 Nc4c34c36a36e43fe9fb897cebb8f8216 schema:name doi
    180 schema:value 10.1038/sj.ejhg.5200516
    181 rdf:type schema:PropertyValue
    182 Ncc6b8c4705be4a54add68c1b16b72a2f rdf:first sg:person.060332142.23
    183 rdf:rest Na44fba28e4384963ba985e44e76a2001
    184 Nccb61c7f9c264b40a3c6fe4d24192563 schema:name INSERM U383, Université Réné Descartes, Paris V, Hôpital Necker-Enfants Malades, Paris, France
    185 Laboratoire de Biochimie et de Génétique Moléculaire, CHU Ambroise Paré AP-HE, Boulogne, France
    186 rdf:type schema:Organization
    187 Nd3e828998b7b4bf98ca1e83cac0257ac schema:name INSERM U383, Université Réné Descartes, Paris V, Hôpital Necker-Enfants Malades, Paris, France
    188 rdf:type schema:Organization
    189 Nd6255288b67b41c18784e2a9261695b1 rdf:first sg:person.07703761724.04
    190 rdf:rest N302fd5a651564da7a5e863fd2982c3f7
    191 Nd7616eb73d1042eaba2bac996bcfc02c schema:name Point Médical, Dijon, France
    192 rdf:type schema:Organization
    193 Ndb42316994b54c79a79ab6ec14bbbf27 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    194 schema:name Mathematical Computing
    195 rdf:type schema:DefinedTerm
    196 Nedef460a228c44bf9c6070fdc739a5e1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    197 schema:name Chromosome Mapping
    198 rdf:type schema:DefinedTerm
    199 Nf011efacf4b347d9929100c3be5f0c57 rdf:first sg:person.0106217563.93
    200 rdf:rest N5cad92d579a64f36a3557b5d03e5392d
    201 Nf5353dd5ad8b4cc48ec1d3c7065bc672 schema:name Service de Biochimie, CHU Saint-Louis, Paris, France
    202 rdf:type schema:Organization
    203 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    204 schema:name Biological Sciences
    205 rdf:type schema:DefinedTerm
    206 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    207 schema:name Genetics
    208 rdf:type schema:DefinedTerm
    209 sg:journal.1103410 schema:issn 1018-4813
    210 1476-5438
    211 schema:name European Journal of Human Genetics
    212 rdf:type schema:Periodical
    213 sg:person.01004762662.79 schema:affiliation N0a8238ad3fc04e0e925500b4f2a7974d
    214 schema:familyName Devillers
    215 schema:givenName Martine
    216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004762662.79
    217 rdf:type schema:Person
    218 sg:person.01033224173.87 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
    219 schema:familyName Saint-Jore
    220 schema:givenName Bruno
    221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033224173.87
    222 rdf:type schema:Person
    223 sg:person.0106217563.93 schema:affiliation https://www.grid.ac/institutes/grid.14925.3b
    224 schema:familyName Bonaïti-Péllié
    225 schema:givenName Catherine
    226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0106217563.93
    227 rdf:type schema:Person
    228 sg:person.01160364045.19 schema:affiliation Nbd34d2cca8e84c63ad1d798fc20ec488
    229 schema:familyName Chanu
    230 schema:givenName Bernard
    231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160364045.19
    232 rdf:type schema:Person
    233 sg:person.01207227363.31 schema:affiliation Nd7616eb73d1042eaba2bac996bcfc02c
    234 schema:familyName Farnier
    235 schema:givenName Michel
    236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207227363.31
    237 rdf:type schema:Person
    238 sg:person.01212421615.25 schema:affiliation N0e268ae91a97456293b180e03f470b87
    239 schema:familyName Rabès
    240 schema:givenName Jean-Pierre
    241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212421615.25
    242 rdf:type schema:Person
    243 sg:person.01265537703.42 schema:affiliation N99c405ac4a854e6a9d66e70fc9a6db42
    244 schema:familyName Varret
    245 schema:givenName Mathilde
    246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265537703.42
    247 rdf:type schema:Person
    248 sg:person.01271273776.81 schema:affiliation N04c4854972a94c6b99b400264601a80d
    249 schema:familyName Mathé
    250 schema:givenName Denis
    251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271273776.81
    252 rdf:type schema:Person
    253 sg:person.01340247124.19 schema:affiliation N045b46d4c4714b5686cea0226d53f251
    254 schema:familyName Jacotot
    255 schema:givenName Bernard
    256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340247124.19
    257 rdf:type schema:Person
    258 sg:person.060332142.23 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
    259 schema:familyName Krempf
    260 schema:givenName Michel
    261 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.060332142.23
    262 rdf:type schema:Person
    263 sg:person.0662333417.33 schema:affiliation Naf3111d32b894d74ab57346de186d8b5
    264 schema:familyName Junien
    265 schema:givenName Claudine
    266 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662333417.33
    267 rdf:type schema:Person
    268 sg:person.0704510060.46 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
    269 schema:familyName Blanchard
    270 schema:givenName Patricia
    271 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0704510060.46
    272 rdf:type schema:Person
    273 sg:person.0730446617.65 schema:affiliation Nccb61c7f9c264b40a3c6fe4d24192563
    274 schema:familyName Boileau
    275 schema:givenName Catherine
    276 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730446617.65
    277 rdf:type schema:Person
    278 sg:person.0746744756.15 schema:affiliation Nd3e828998b7b4bf98ca1e83cac0257ac
    279 schema:familyName Dachet
    280 schema:givenName Christiane
    281 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746744756.15
    282 rdf:type schema:Person
    283 sg:person.07703761724.04 schema:affiliation Nf5353dd5ad8b4cc48ec1d3c7065bc672
    284 schema:familyName Erlich
    285 schema:givenName Danielle
    286 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07703761724.04
    287 rdf:type schema:Person
    288 sg:pub.10.1007/bf00422946 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047545783
    289 https://doi.org/10.1007/bf00422946
    290 rdf:type schema:CreativeWork
    291 sg:pub.10.1038/ng1295-422 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002089351
    292 https://doi.org/10.1038/ng1295-422
    293 rdf:type schema:CreativeWork
    294 https://doi.org/10.1002/humu.1380010411 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005485704
    295 rdf:type schema:CreativeWork
    296 https://doi.org/10.1002/humu.1380020216 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002291077
    297 rdf:type schema:CreativeWork
    298 https://doi.org/10.1016/0002-9149(93)90155-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028355962
    299 rdf:type schema:CreativeWork
    300 https://doi.org/10.1016/0021-9150(90)90031-d schema:sameAs https://app.dimensions.ai/details/publication/pub.1012096071
    301 rdf:type schema:CreativeWork
    302 https://doi.org/10.1016/0021-9150(91)90053-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004312199
    303 rdf:type schema:CreativeWork
    304 https://doi.org/10.1016/0092-8674(84)90188-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002502298
    305 rdf:type schema:CreativeWork
    306 https://doi.org/10.1016/0888-7543(90)90282-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1041091076
    307 rdf:type schema:CreativeWork
    308 https://doi.org/10.1016/0888-7543(92)90364-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1002364232
    309 rdf:type schema:CreativeWork
    310 https://doi.org/10.1016/s0022-3476(74)80506-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010439428
    311 rdf:type schema:CreativeWork
    312 https://doi.org/10.1056/nejm199805283382203 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047556181
    313 rdf:type schema:CreativeWork
    314 https://doi.org/10.1073/pnas.81.11.3443 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029141151
    315 rdf:type schema:CreativeWork
    316 https://doi.org/10.1073/pnas.82.24.8567 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043511975
    317 rdf:type schema:CreativeWork
    318 https://doi.org/10.1073/pnas.84.19.6919 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043060575
    319 rdf:type schema:CreativeWork
    320 https://doi.org/10.1073/pnas.86.1.212 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046341985
    321 rdf:type schema:CreativeWork
    322 https://doi.org/10.1086/302370 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609947
    323 rdf:type schema:CreativeWork
    324 https://doi.org/10.1093/nar/17.10.4003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023532353
    325 rdf:type schema:CreativeWork
    326 https://doi.org/10.1161/01.atv.15.8.1025 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063334070
    327 rdf:type schema:CreativeWork
    328 https://doi.org/10.1161/01.atv.17.11.3092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063334535
    329 rdf:type schema:CreativeWork
    330 https://doi.org/10.1161/01.atv.19.3.802 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003565498
    331 rdf:type schema:CreativeWork
    332 https://doi.org/10.1172/jci107332 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025707566
    333 rdf:type schema:CreativeWork
    334 https://doi.org/10.1172/jci112729 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044020669
    335 rdf:type schema:CreativeWork
    336 https://doi.org/10.1172/jci114212 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042908905
    337 rdf:type schema:CreativeWork
    338 https://doi.org/10.1172/jci114531 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029801903
    339 rdf:type schema:CreativeWork
    340 https://doi.org/10.1172/jci117772 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049356326
    341 rdf:type schema:CreativeWork
    342 https://www.grid.ac/institutes/grid.14925.3b schema:alternateName Institut Gustave Roussy
    343 schema:name INSERM U351, Institut Gustave Roussy, Villejuif, France
    344 rdf:type schema:Organization
    345 https://www.grid.ac/institutes/grid.277151.7 schema:alternateName Centre Hospitalier Universitaire de Nantes
    346 schema:name Service d'Endocrinologie, CHU Hotel Dieu, Nantes, France
    347 rdf:type schema:Organization
    348 https://www.grid.ac/institutes/grid.411439.a schema:alternateName Pitié-Salpêtrière Hospital
    349 schema:name INSERM U383, Université Réné Descartes, Paris V, Hôpital Necker-Enfants Malades, Paris, France
    350 Present address: INSERM U321, Hôpital Pitié-Salpétrière, Paris, France
    351 rdf:type schema:Organization
     




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


    ...