Article
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Nature genetics - 1 Nov 1998
Strautnieks S S, Bull L N, Knisely A S, Kocoshis S A, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner M S, Kagalwalla A F, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer N B, Gardiner R M, Thompson R J
Abstract excerpt
The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) and 18q. The phenotype of the PFIC2-linked group is consistent with defective bile acid transport...
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