A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
- Author
- STRAUTNIEKS, S. S1 ; BULL, L. N2 ; TANNER, M. S9 ; KAGALWALLA, A. F; NEMETH, A10 ; PAWLOWSKA, J11 ; BAKER, A12 ; MIELI-VERGANI, G12 ; FREIMER, N. B13 2 ; GARDINER, R. M1 ; THOMPSON, R. J1 ; KNISELY, A. S3 ; KOCOSHIS, S. A4 ; DAHL, N5 ; ARNELL, H5 ; SOKAL, E6 ; DAHAN, K7 ; CHILDS, S8 ; LING, V8
[1] Department of Paediatrics, University College London Medical School, London, United Kingdom
[2] Neurogenetics Laboratory, Center for Neurobiology and Psychiatry, Department of Psychiatry, and Liver Center, UCSF San Francisco, California, United States
[3] Division of Surgical Pathology, University of texas Medical Branch, Galveston, Texas, United States
[4] Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States
[5] Department of Genetics and Pathology, University of Uppsala, Uppsala, Sweden
[6] Department of Pediatrics, Université Catholique Louvain, Louvain, Canada
[7] Department of Medical Genetics, Université Catholique Louvain, Louvain, Canada
[8] BC Cancer Research Centre, Vancouver, British Columbia, Canada
[9] Sheffield Children's Hospital, Sheffield, United Kingdom
[10] Department of Pediatrics, Huddinge University Hospital, Huddinge, Sweden
[11] Children's Memorial Health Institute, Warsaw, Poland
[12] Department of Child Health, King's College Hospital and King's College of Medicine and Dentistry, London, United Kingdom
[13] Programs in Biomedical Sciences and Genetics, UCSF, California, United States - Source
Nature genetics. 1998, Vol 20, Num 3, pp 233-238 ; ref : 37 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Acide biliaire Carte génétique Cholostase intrahépatique Chromosome A2 Expression génique Foie Gène Homme Homologie Mutation Protéine transport Sécrétion Séquence nucléotide Transporteur ABC Appareil digestif pathologie Biologie moléculaire Foie pathologie Maladie héréditaire Voie biliaire pathologie
- Keyword (en)
- Bile acid Genetic mapping Intrahepatic cholostasis Chromosome A2 Gene expression Liver Gene Human Homology Mutation Carrier protein Secretion Nucleotide sequence ABC transporter Digestive diseases Molecular biology Hepatic disease Genetic disease Biliary tract disease
- Keyword (es)
- Acido biliar Mapa genético Colostasis intrahepática Cromosoma A2 Expresión genética Hígado Gen Hombre Homología Mutación Proteína transportador Secreción Secuencia nucleótido Transportador ABC Aparato digestivo patología Biología molecular Hígado patología Enfermedad hereditaria Vía biliar patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B13 Gastroenterology. Liver. Pancreas. Abdomen / 002B13C Liver. Biliary tract. Portal circulation. Exocrine pancreas / 002B13C03 Other diseases. Semiology
- Discipline
- Gastroenterology. Liver. Pancreas. Abdomen
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1596909
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/3034 
https://dx.doi.org/10.1038/3034
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