Publication Name	World Journal of Gastroenterology
Manuscript ID	12527
Country	China

Received	2014-07-14 09:02
Peer-Review Started	2014-07-14 19:10
To Make the First Decision	2014-08-15 12:17
Return for Revision	2014-08-20 13:11
Revised	2014-09-03 11:22
Second Decision	2014-11-11 09:38
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2014-11-19 09:09
Articles in Press	2014-11-19 09:40
Publication Fee Transferred
Edit the Manuscript by Language Editor	2015-01-07 07:51
Typeset the Manuscript	2015-02-08 20:52
Publish the Manuscript Online	2015-02-28 17:07

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/
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Category	Gastroenterology & Hepatology
Manuscript Type	Basic Study
Article Title	Screening analysis of candidate gene mutations in a kindred with polycystic liver disease
Manuscript Source	Unsolicited Manuscript
All Author List	Song Jin, Kai Cui, Zi-Qiang Sun, Yang-Yang Shen, Pang Li, Zhen-Dan Wang, Fei-Fei Li, Ke-Nan Gong and Sheng Li
Funding Agency and Grant Number	Funding Agency Grant Number Science and Technology Projects of the Medicine and Health of Shandong Province 2013WS0362 Natural Science Foundation of Shandong Province of China 30810403081 Department of Science and Technology of Shandong Province of China 2011GGC03085
Corresponding Author	Sheng Li, MD, Department of Hepatobiliary Surgery, Shandong Cancer Hospital, 440 Jiyan Road, Jinan 250117, Shandong Province, China. drlisheng@sohu.com
Key Words	Gene mutation; Polycystic liver disease; Kindred
Core Tip	This study explored the mutable sites in the PKD1 gene and found the potential mutable sites by detecting mutations of the candidate gene in a kindred with polycystic liver disease (PCLD). We analysed five blood samples obtained from the kindred by using long-range polymerase chain reaction and direct sequencing with different primers. We found synonymous mutations in exons 5, 11, 15, and 35 of the PKD1 gene. Only the mutation in exon 15 was not in the dbSNP library, and it was a heterozygous CT in the proband and was C in the reference sequence. This mutation was located in the first codon and resulted in a termination codon. This nonsense mutation existed also in the third individual, so the mutable site was a pathogenic mutation.
Publish Date	2015-02-28 17:07
Citation	Jin S, Cui K, Sun ZQ, Shen YY, Li P, Wang ZD, Li FF, Gong KN, Li S. Screening analysis of candidate gene mutations in a kindred with polycystic liver disease. World J Gastroenterol 2015; 21(8): 2343-2351
URL	http://www.wjgnet.com/1007-9327/full/v21/i8/2343.htm
DOI	http://dx.doi.org/10.3748/wjg.v21.i8.2343

Full Article (PDF)	WJG-21-2343.pdf
Full Article (Word)	WJG-21-2343.doc
Manuscript File	12527-Review.doc
Answering Reviewers	12527-Answering reviewers.pdf
Copyright License Agreement	12527-Copyright assignment.pdf
Non-Native Speakers of English Editing Certificate	12527-Language certificate.pdf
Peer-review Report	12527-Peer review.pdf
Scientific Misconduct Check	12527-CorssCheck.jpg
Scientific Editor Work List	12527-Scientific editor work list.pdf