First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis-Reference-Cited by-同舟云学术

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

Published:2011-10-12 Issue:3 Volume:20 Page:277-282
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Pasmant Eric,Goussard Philippe,Baranes Laetitia,Laurendeau Ingrid,Quentin Samuel,Ponsot Philippe,Consigny Yann,Farges Olivier,Condat Bertrand,Vidaud Dominique,Vidaud Michel,Chen Jian-Min,Parfait Béatrice

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011186.pdf

Reference43 articles.

1. Oude Elferink RP, Paulusma CC, Groen AK : Hepatocanalicular transport defects: pathophysiologic mechanisms of rare diseases. Gastroenterology 2006; 130: 908–925.

2. Lincke CR, Smit JJ, van der Velde-Koerts T, Borst P : Structure of the human MDR3 gene and physical mapping of the human MDR locus. J Biol Chem 1991; 266: 5303–5310.

3. Oude Elferink RP, Paulusma CC : Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein). Eur J Physiol 2007; 453: 601–610.

4. Lucena JF, Herrero JI, Quiroga J et al: A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003; 124: 1037–1042.

5. Kano M, Shoda J, Sumazaki R, Oda K, Nimura Y, Tanaka N : Mutations identified in the human multidrug resistance P-glycoprotein 3 (ABCB4) gene in patients with primary hepatolithiasis. Hepatol Res 2004; 29: 160–166.

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