Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis-Reference-Cited by-同舟云学术

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis

Published:2017-03-23 Issue:5 Volume:65 Page:1655-1669
ISSN:0270-9139
Container-title:Hepatology
language:en
Short-container-title:Hepatology

Author:

Qiu Yi-Ling¹,Gong Jing-Yu²,Feng Jia-Yan³,Wang Ren-Xue⁴,Han Jun⁵,Liu Teng²,Lu Yi¹,Li Li-Ting¹,Zhang Mei-Hong²,Sheps Jonathan A.⁴,Wang Neng-Li²,Yan Yan-Yan²,Li Jia-Qi²,Chen Lian³,Borchers Christoph H.⁵,Sipos Bence⁶,Knisely A.S.⁷,Ling Victor⁴,Xing Qing-He⁸,Wang Jian-She²⁹

Affiliation:

1. The Center for Pediatric Liver Diseases; Children's Hospital of Fudan University; Shanghai China

2. Department of Pediatrics; Jinshan Hospital of Fudan University; Shanghai China

3. Department of Pathology; Children's Hospital of Fudan University; Shanghai China

4. BC Cancer Agency; Vancouver British Columbia Canada

5. University of Victoria−Genome BC Proteomics Centre; University of Victoria; Victoria British Columbia Canada

6. Institute of General Pathology and Neuropathology; Tübingen University Hospital; Tübingen Germany

7. Institute of Pathology; Graz Medical University; Graz Austria

8. Institutes of Biomedical Sciences of Fudan University; Shanghai China

9. Department of Infectious Diseases; Children's Hospital of Fudan University; Shanghai China

Funder

National Natural Science Foundation of China

Terry Fox Research Institute

Canadian Institutes of Health Research

Genome Canada and Genome BC through the “Science and Technology Innovation Centre”

Publisher

Wiley

Subject

Hepatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/hep.29020/fullpdf

Reference41 articles.

1. Neonatal cholestasis;Feldman;NeoReviews,2013

2. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis;Bull;Nat Genet,1998

3. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis;Thompson;Nat Genet,1998

4. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis;Vree;Proc Natl Acad Sci U S A,1998

5. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT;Liu;J Pediatr Gastroenterol Nutr,2010

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