ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population-Reference-Cited by-同舟云学术

ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population

Published:2017-02-20 Issue:13 Volume:74 Page:2513-2524
ISSN:1420-682X
Container-title:Cellular and Molecular Life Sciences
language:en
Short-container-title:Cell. Mol. Life Sci.

Author:

Andress Edward J.,Nicolaou Michael,McGeoghan Farrell,Linton Kenneth J.

Funder

Medical Research Council

Barts and The London Charity

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Cellular and Molecular Neuroscience,Pharmacology,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/article/10.1007/s00018-017-2472-6/fulltext.html

Reference36 articles.

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4. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ (1998) A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 20(3):233–238

5. Poupon R, Barbu V, Chamouard P, Wendum D, Rosmorduc O, Housset C (2010) Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3. Liver Int 30(2):327–331

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