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Articles Published Processes
11/26/2019 7:21:45 AM | Browse: 574 | Download: 785
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Received |
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2019-04-29 00:57 |
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Peer-Review Started |
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2019-04-30 04:45 |
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To Make the First Decision |
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2019-08-02 03:34 |
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Return for Revision |
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2019-08-15 02:39 |
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Revised |
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2019-10-17 13:42 |
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Second Decision |
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2019-10-24 01:33 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2019-10-29 17:48 |
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Articles in Press |
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2019-10-29 17:48 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2019-11-04 00:14 |
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Typeset the Manuscript |
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2019-11-21 11:56 |
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Publish the Manuscript Online |
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2019-11-26 07:21 |
| 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 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 |
Endocrinology & Metabolism |
| Manuscript Type |
Case Report |
| Article Title |
Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Ping-Ping Dang, Wei-Wei Xiao, Zhong-Yan Shan, Yue Xi, Ran-Ran Wang, Xiao-Hui Yu, Wei-Ping Teng and Xiao-Chun Teng |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Chinese National Natural Science Foundation |
81570711 |
| National Clinical Key College Fund and the Key Platform Foundation of Science and Technology for the Universities in Liaoning Province |
16010 |
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| Corresponding Author |
Xiao-Chun Teng, MD, PhD, Professor, Department of Endocrinology and Metabolism, The Endocrine Institute and The Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang 110001, Liaoning Province, China. tengxiaochun@126.com |
| Key Words |
Thyroxine-binding globulin; Complete thyroxine-binding globulin deficiency; Partial thyroxine-binding globulin deficiency; Gene polymorphism; Case report; |
| Core Tip |
We present herein a novel thyroxine-binding globulin (TBG) mutation in exon1, c.381_382 ins TTGCAGATAGGAAATGCCC (p.Phe135Alafs*21), which is associated with complete TGB deficiency in a Chinese family. This 19-nucleotide insertion in exon 1 resulted in a frameshift and a premature stop codon at position 155 of the protein coding sequence. The TBG deficiency is often misdiagnosed as hypothyroidism. Clinical awareness is needed to correctly diagnose affected individuals and avoid unnecessary treatment. Genomic testing is a method to identify the mutation carriers and provide appropriate genetic counseling for affected individuals. |
| Publish Date |
2019-11-26 07:21 |
| Citation |
Dang PP, Xiao WW, Shan ZY, Xi Y, Wang RR, Yu XH, Teng WP, Teng XC. Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report. World J Clin Cases 2019; 7(22): 3887-3894 |
| URL |
https://www.wjgnet.com/2307-8960/full/v7/i22/3887.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v7.i22.3887 |
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