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Articles Published Processes
1/18/2015 4:09:00 PM | Browse: 997 | Download: 1271
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Received |
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2014-04-20 13:26 |
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Peer-Review Started |
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2014-04-20 16:15 |
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To Make the First Decision |
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2014-05-13 19:59 |
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Return for Revision |
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2014-05-21 08:26 |
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Revised |
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2014-06-10 00:00 |
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Second Decision |
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2014-07-11 17:03 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2014-07-11 17:14 |
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Articles in Press |
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2014-07-11 17:30 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2014-07-15 18:47 |
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Typeset the Manuscript |
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2014-12-25 15:55 |
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Publish the Manuscript Online |
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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
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Gastroenterology & Hepatology |
| Manuscript Type |
Case Report |
| Article Title |
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang and Xi-Zhong Shen |
| Funding Agency and Grant Number |
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| Corresponding Author |
Hong Shi, MD, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Shanghai 200032, China. shihongcn@hotmail.com |
| Key Words |
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 |
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