A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
作者： Sandra S. Strautnieks , Laura N. Bull , Alexander S. Knisely , Samuel A. Kocoshis , Niklas Dahl
DOI: 10.1038/3034
关键词: ATP-binding cassette transporter 、 ABCB4 、 ABCB11 、 Bile Salt Export Pump 、 SLC10A1 、 Genetics 、 Biology 、 Benign Recurrent Intrahepatic Cholestasis 、 Bile acid 、 Progressive familial intrahepatic cholestasis
摘要: … (γGT) levels is genetically heterogeneous with loci on chromosomes … membrane. The PFIC2 gene has now been identified by mutations in a positional candidate, BSEP, which encodes …
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