A novel pathogenic variant of ATP-binding cassette subfamily B member 4 causing gallstones in a young adult-Reference-Cited by-同舟云学术

A novel pathogenic variant of ATP-binding cassette subfamily B member 4 causing gallstones in a young adult

Published:2019-05-21 Issue:6 Volume:12 Page:637-641
ISSN:1865-7257
Container-title:Clinical Journal of Gastroenterology
language:en
Short-container-title:Clin J Gastroenterol

Author:

Ishizawa Tetsuya^ORCID,Makino Naohiko,Kakizaki Yasuharu,Ando Yoshiaki,Matsuda Akiko,Kobayashi Toshikazu,Ikeda Chisaki,Sugahara Shinpei,Tsunoda Michihiko,Sato Hidenori,Murakami Ryoko,Ueno Yoshiyuki

Publisher

Springer Science and Business Media LLC

Subject

Gastroenterology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12328-019-00991-x.pdf

Reference21 articles.

1. Lammert F, Gurusamy K, Ko CW, et al. Gallstones. Nat Rev Dis Primers. 2016;2:16024.

2. Rosmorduc O, Poupon R. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis. 2007;2:29.

3. Gordo-Gilart R, Andueza S, Hierro L, et al. Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. Gut. 2015;64:147–55.

4. Delaunay JL, Durand-Schneider AM, Dossier C, et al. A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3. Hepatology. 2016;63:1620–31.

5. Park HJ, Kim TH, Kim SW, et al. Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. Sci Rep. 2016;6:26872.

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