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8/6/2019 11:50:46 AM | Browse: 157 | Download: 104
Publication Name World Journal of Clinical Cases
Manuscript ID 46809
Country/Territory China
2019-02-28 01:18
Peer-Review Started
2019-03-04 08:18
To Make the First Decision
2019-06-03 03:35
Return for Revision
2019-06-17 01:14
2019-06-23 14:28
Second Decision
2019-07-02 09:32
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2019-07-03 17:02
Articles in Press
2019-07-03 17:02
Publication Fee Transferred
Edit the Manuscript by Language Editor
2019-07-07 23:51
Typeset the Manuscript
2019-08-02 06:11
Publish the Manuscript Online
2019-08-06 11:50
ISSN 2307-8960 (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) 2019. 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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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Medicine, Research and Experimental
Manuscript Type Case Report
Article Title c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of literature
Manuscript Source Unsolicited Manuscript
All Author List Yu-Qing Wang, Chuang-Li Hao, Wu-Jun Jiang, Yan-Hong Lu, Hui-Quan Sun, Chun-Yan Gao and Min Wu
Author(s) ORCID Number
Yu-Qing Wang http://orcid.org/0000-0002-4153-3984
Chuang-Li Hao http://orcid.org/0000-0002-1342-8175
Wu-Jun Jiang http://orcid.org/0000-0002-1538-9069
Yan-Hong Lu http://orcid.org/0000-0002-9447-6493
Hui-Quan Sun http://orcid.org/0000-0002-1200-0812
Chun-Yan Gao http://orcid.org/0000-0001-6875-9652
Min Wu http://orcid.org/0000-0001-9758-9517
Funding Agency and Grant Number
Funding Agency Grant Number
National Natural Science Foundation of China 81573167
Science and Technology Project of Jiangsu BE2017657
Livelihood science and technology Project of Suzhou SYS201640
Corresponding author Yu-Qing Wang, MD, Chief Doctor, Deputy director of respiratory medicine, Department of Respiratory Medicine, Children’s Hospital of Soochow University, No. 303 Jing De Road, Suzhou 215000, Jiangsu Province, China. wang_yu_qing@126.com
Keywords Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Mutation; Chinese children; Case report;
Core Tip Cystic fibrosis (CF) is an autosomal recessive inherited disease caused by mutations in the CF transmembrane conduction regulator (CFTR) gene. CF is rare in Chinese. ΔF508 is the most common mutation, accounting for greater than two-thirds of CF alleles worldwide, though it is not a predominant mutation in Chinese CF patients. In the present study, we reported a novel homozygous complex rearrangement involving CFTR exon 7 deletion (c.753_754delAG chr7-117176607-117176608) in a Chinese child with CF and describe the clinical feature. Moreover, we further reviewed the literature regarding gene mutations in Chinese CF cases from the 1970s to 2017s.
Publish Date 2019-08-06 11:50
Citation Wang YQ, Hao CL, Jiang WJ, Lu YH, Sun HQ, Gao CY, Wu M. c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of literature. World J Clin Cases 2019; 7(15):2110-2119
Url https://www.wjgnet.com/2307-8960/full/v7/i15/2110.htm
DOI https://dx.doi.org/10.12998/wjcc.v7.i15.2110
Full Article (PDF) WJCC-7-2110.pdf
Full Article (Word) WJCC-7-2110.docx
Manuscript File 46809-Review_Edited.docx
Answering Reviewers 46809-Answering reviewers.pdf
Audio Core Tip 46809-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 46809-Conflict-of-interest statement.pdf
Copyright License Agreement 46809-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 46809-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 46809-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 46809-Language certificate.pdf
Peer-review Report 46809-Peer-review(s).pdf
Scientific Misconduct Check 46809-Scientific misconduct check.pdf
Scientific Editor Work List 46809-Scientific editor work list.pdf