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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Gomez-Ospina, Natalia; Potter, Carol J; Xiao, Rui; Manickam, Kandamurugu; Kim, Mi-Sun; Kim, Kang Ho; Shneider, Benjamin L; Picarsic, Jennifer L; Jacobson, Theodora A; Zhang, Jing; He, Weimin; Liu, Pengfei; Knisely, A S; Finegold, Milton J; Muzny, Donna M; Boerwinkle, Eric; Lupski, James R; Plon, Sharon E; Gibbs, Richard A; Eng, Christine M; Yang, Yaping; Washington, Gabriel C; Porteus, Matthew H; Berquist, William E; Kambham, Neeraja; Singh, Ravinder J; Xia, Fan; Enns, Gregory M; Moore, David D.
Afiliação
  • Gomez-Ospina N; Lucile Packard Children's Hospital, Divisions of Medical Genetics, Stanford University Medical Center, Stanford, California 94305, USA.
  • Potter CJ; Section of Human and Molecular Genetics, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
  • Xiao R; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Manickam K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Kim MS; Section of Human and Molecular Genetics, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
  • Kim KH; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Shneider BL; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Picarsic JL; Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Jacobson TA; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.
  • Zhang J; Section of Human and Molecular Genetics, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
  • He W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Knisely AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Finegold MJ; Institute of Liver Studies, King's College Hospital, London SE5 9R5, UK.
  • Muzny DM; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Yang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Washington GC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Porteus MH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Berquist WE; Pediatric Stem Cell Transplantation, Stanford University Medical Center, Stanford, California 94305, USA.
  • Kambham N; Pediatric Stem Cell Transplantation, Stanford University Medical Center, Stanford, California 94305, USA.
  • Singh RJ; Pediatric Gastroenterology, Stanford University Medical Center, Stanford, California 94305, USA.
  • Xia F; Anatomic and Clinical Pathology, Stanford University Medical Center, Stanford, California 94305, USA.
  • Enns GM; Immunochemistry Core Laboratory, College of Medicine, Mayo Clinic, Rochester, Minnesota 55902, USA.
  • Moore DD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Nat Commun ; 7: 10713, 2016 Feb 18.
Article em En | MEDLINE | ID: mdl-26888176
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Receptores Citoplasmáticos e Nucleares / Mutação Limite: Adult / Female / Humans / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Receptores Citoplasmáticos e Nucleares / Mutação Limite: Adult / Female / Humans / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos