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Articles Published Processes
8/6/2019 11:50:46 AM | Browse: 1118 | Download: 1807
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Received |
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2019-02-28 01:18 |
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Peer-Review Started |
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2019-03-04 08:18 |
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To Make the First Decision |
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2019-06-03 03:35 |
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Return for Revision |
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2019-06-17 01:14 |
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Revised |
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2019-06-23 14:28 |
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Second Decision |
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2019-07-02 09:32 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2019-07-03 17:02 |
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Articles in Press |
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2019-07-03 17:02 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2019-07-07 23:51 |
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Typeset the Manuscript |
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2019-08-02 06:11 |
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Publish the Manuscript Online |
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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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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 |
Medicine, Research & 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
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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 |
ORCID |
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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 |
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Corresponding Author |
Yu-Qing Wang, MD, Chief Doctor, 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 |
Key Words |
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 |
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