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Articles Published Processes
11/22/2021 10:34:52 AM | Browse: 420 | Download: 1043
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Received |
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2021-03-29 11:39 |
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Peer-Review Started |
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2021-03-29 11:46 |
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To Make the First Decision |
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Return for Revision |
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2021-08-18 02:00 |
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Revised |
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2021-08-27 04:53 |
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Second Decision |
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2021-09-09 03:19 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-09-10 09:19 |
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Articles in Press |
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2021-09-10 09:19 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-10-09 12:44 |
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Typeset the Manuscript |
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2021-11-15 01:31 |
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Publish the Manuscript Online |
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2021-11-22 10:34 |
| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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) 2021. 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, General & Internal |
| Manuscript Type |
Case Report |
| Article Title |
Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Li-Ling Zhang, Jia-Ru Lin, Ting-Ting Zhu, Qi Liu, Dong-Mei Zhang, Lin-Wang Gan, Ying Li and San-Tao Ou |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
San-Tao Ou, PhD, Doctor, Doctor, Professor, Department of Nephrology, the Affiliated Hospital of Southwest Medical University, No. 25 Taiping Street, Luzhou 646000, Sichuan Province, China. ousantao@163.com |
| Key Words |
Autosomal dominant tubulointerstitial kidney disease; Hyperuricemia; Uromodulin gene; Mutation; Case report |
| Core Tip |
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a progressive chronic disease that is inherited in an autosomal dominant fashion. It can cause multiple organ damage, and even end-stage renal disease. Mutations in the uromodulin gene (UMOD) characterize the ADTKD-UMOD clinical subtype of this disease. We report a novel heterozygous missense mutation in UMOD (c.554G>T; p. Arg185Leu). This mutation has not been previously reported, it can help facilitate the presymptomatic diagnosis of this rare condition, in addition to helping guide genetic counseling and family planning for relatives of affected individuals. |
| Publish Date |
2021-11-22 10:34 |
| Citation |
Zhang LL, Lin JR, Zhu TT, Liu Q, Zhang DM, Gan LW, Li Y, Ou ST. Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report. World J Clin Cases 2021; 9(33): 10249-10256 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i33/10249.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i33.10249 |
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