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A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
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Document type | Article de périodique (Journal article) – Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S. |
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Publication date | 1998 |
Journal information | "Nature genetics" - Vol. 20, no. 3, p. 233-8 (1998) |
Peer reviewed | yes |
issn | 1061-4036 |
Publication status | Publié |
Affiliation | UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie |
MESH Subject | ATP-Binding Cassette Transporters - chemistry - genetics - metabolism ; Amino Acid Sequence ; Animals ; Bile Acids and Salts - metabolism ; Cholestasis, Intrahepatic - genetics - metabolism ; Chromosome Mapping ; Chromosomes, Human, Pair 2 - genetics ; Consanguinity ; DNA, Complementary - genetics ; Female ; Humans ; Infant ; Liver - metabolism ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Rats ; Sequence Homology, Amino Acid |
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Bibliographic reference | Strautnieks, S S ; Bull, L N ; Knisely, A S ; Kocoshis, S A ; Dahl, N ; et. al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.. In: Nature genetics, Vol. 20, no. 3, p. 233-8 (1998) |
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Permanent URL | http://hdl.handle.net/2078.1/21548 |