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Articles Published Processes
11/23/2022 9:44:45 AM | Browse: 253 | Download: 636
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Received |
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2022-07-11 15:43 |
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Peer-Review Started |
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2022-07-11 15:45 |
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To Make the First Decision |
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Return for Revision |
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2022-09-25 10:06 |
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Revised |
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2022-10-10 13:56 |
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Second Decision |
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2022-11-02 03:13 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-11-02 07:32 |
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Articles in Press |
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2022-11-02 07:32 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2022-11-06 01:29 |
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Publish the Manuscript Online |
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2022-11-23 09:44 |
| 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 |
©The Author(s) 2022. 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 |
Endocrinology & Metabolism |
| Manuscript Type |
Case Report |
| Article Title |
Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yu-Qing Zhou, Xiao-Qing Wang, Jun Jiang, Shu-Ling Huang, Zhuo-Jin Dai and Qiao-Qiong Kong |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Shu-Ling Huang, BSc, Professor, Department of Endocrinology , Dongguan Hospital of Traditional Chinese Medicine, No. 22 Songshanhu Avenue, Dongguan 523003, Guangdong Province, China. huangshuling_email@qq.com |
| Key Words |
Acute intermittent porphyria; Hydroxymethylbilane synthase gene; Novel mutation; Minigene assay; Bioinformatics analysis; Case report |
| Core Tip |
The possible pathogenic loci in a woman with acute intermittent porphyria were identified by direct sequencing, which revealed a novel heterozygous splicing mutation (c.648_651+1delCCAGG) in exon 10 of hydroxymethylbilane synthase gene. Aberrant splicing, which led to the production of a truncated protein, was confirmed through an in vitro minigene assay and bioinformatics analysis. |
| Publish Date |
2022-11-23 09:44 |
| Citation |
Zhou YQ, Wang XQ, Jiang J, Huang SL, Dai ZJ, Kong QQ. Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report. World J Clin Cases 2022; 10(33): 12319-12327 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i33/12319.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i33.12319 |
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