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1/18/2015 4:09:00 PM | Browse: 437 | Download: 602
Publication Name World Journal of Gastroenterology
Manuscript ID 10804
Country of Manuscript Source China
Received
2014-04-20 13:26
Peer-Review Started
2014-04-20 16:15
To Make the First Decision
2014-05-13 19:59
Return for Revision
2014-05-21 08:26
Revised
2014-06-10 00:00
Second Decision
2014-07-11 17:03
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2014-07-11 17:14
Articles in Press
2014-07-11 17:30
Publication Fee Transferred
Edit the Manuscript by Language Editor
2014-07-15 18:47
Typeset the Manuscript
2014-12-25 15:55
Publish the Manuscript Online
2015-01-18 16:09
ISSN 1007-9327 (print) and 2219-2840 (online)
Open Access This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Copyright © The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Specialty Gastroenterology and Hepatology
Manuscript type Case Report
Article Title Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3
Manuscript Source Unsolicited Manuscript
All Author List Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang and Xi-Zhong Shen
Funding Agency and Grant Number
Corresponding author Hong Shi, MD, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Shanghai 200032, China. shihongcn@hotmail.com
Keywords Liver disease; Cholestasis; Progressive familial intrahepatic cholestasis; ABCB4; Gene mutation
Core Tip This study described a 17-year-old Chinese male patient with a 2 years history of intrahepatic cholestasis of unknown etiology who was later diagnosed with progressive familial intrahepatic cholestasis type 3 through clinical findings and gene analysis which revealed multiple mutations in the ABCB4 gene. One novel mutation of the ABCB4 gene p.G602W has also been identified. The novel mutation p.G602W in exon 15 was predicted as probably damaging by PolyPhen-2, with a score of 0.986, and was predicted to affect protein function with a SIFT score of 0.01.
Publish Date 2015-01-18 16:09
Citation Sun HZ, Shi H, Zhang SC, Shen XZ. Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. World J Gastroenterol 2015; 21(2): 699-703
Url http://www.wjgnet.com/1007-9327/full/v21/i2/699.htm
DOI http://dx.doi.org/10.3748/wjg.v21.i2.699
Full Article (PDF) WJG-21-699.pdf
Full Article (Word) WJG-21-699.doc
Manuscript File 10804-Review.doc
Answering Reviewers 10804-Answering reviewers.pdf
Copyright License Agreement 10804-Copyright assignment.pdf
Peer-review Report 10804-Peer review.pdf
Scientific Misconduct Check 10804-CrossCheck.jpg
Scientific Editor Work List 10804-Scientific editor work list.pdf