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Articles Published Processes
5/16/2023 9:24:22 AM | Browse: 84 | Download: 216
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Received |
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2023-01-06 16:32 |
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Peer-Review Started |
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2023-01-06 16:33 |
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To Make the First Decision |
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Return for Revision |
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2023-02-08 01:16 |
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Revised |
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2023-03-15 14:36 |
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Second Decision |
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2023-04-11 02:59 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2023-04-12 01:53 |
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Articles in Press |
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2023-04-12 01:53 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2023-04-10 23:38 |
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Typeset the Manuscript |
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2023-04-28 01:07 |
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Publish the Manuscript Online |
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2023-05-16 09:24 |
| 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: https://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
Copyright: © The Author(s) 2023. 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 |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Jie Wang, Wei-Ting Bu, Mei-Jia Zhu, Ji-You Tang and Xiao-Min Liu |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Shandong Provincial Natural Science Foundation |
ZR2021MH059 |
| the Key Research and Development Project of Shandong Province |
2015GGH318011 |
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| Corresponding Author |
Xiao-Min Liu, PhD, N/A, Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, 16766 Jingshi Road, Jinan 250014, Shandong Province, China. lxmywc@163.com |
| Key Words |
Hereditary spastic paraplegia; SPG4 gene; Mutation; Genetic testing; Autosomal dominant HSP; Adenosine triphosphatases associated with diverse cellular activities; Case report |
| Core Tip |
It is difficult to distinguish HSP from other spasticity-related genetic diseases because the different affected genes lead to large differences in the pathogenic mechanisms, clinical features, and imaging abnormalities of HSP. Therefore, genetic testing is important for the diagnosis and typing of HSP. A Chinese HSP male patient was identified, and pedigree surveys of his relatives were performed. Furthermore, genomic DNA was extracted for whole-exome sequencing, and pathogenic variants were screened by bioinformatics methods and verified using Sanger sequencing. A novel heterozygous duplication mutation, c.1053dupA, p. (Gln352Thrfs*15), was identified in the SPG4 gene in this family. |
| Publish Date |
2023-05-16 09:24 |
| Citation |
Wang J, Bu WT, Zhu MJ, Tang JY, Liu XM. Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report. World J Clin Cases 2023; 11(14): 3288-3294 |
| URL |
https://www.wjgnet.com/2307-8960/full/v11/i14/3288.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v11.i14.3288 |
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