Publication Name	World Journal of Clinical Cases
Manuscript ID	45831
Country	China

Received	2019-01-26 01:12
Peer-Review Started	2019-01-28 06:27
First Decision by Editorial Office Director	2019-03-09 20:04
Return for Revision	2019-03-14 01:19
Revised	2019-03-20 02:07
Publication Fee Transferred
Second Decision by Editor	2019-04-18 10:21
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2019-04-19 01:51
Articles in Press	2019-04-19 01:51
Edit the Manuscript by Language Editor	2019-04-26 17:04
Typeset the Manuscript	2019-06-24 01:52
Publish the Manuscript Online	2019-06-26 06:21

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/
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Category	Medicine, Research & Experimental
Manuscript Type	Case Report
Article Title	Novel heterozygous missense mutation of <i>SLC12A3</i> gene in Gitelman syndrome: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Cheng-Lin Wang
ORCID	Author(s) ORCID Number Cheng-Lin Wang http://orcid.org/0000-0002-6346-7252
Funding Agency and Grant Number
Corresponding Author	Cheng-Lin Wang, MBChB, Attending Doctor, Department of Endocrinology, Shanxi Provincial People's Hospital Affiliated to Shanxi Medical University, Shuangta Street NO. 29, Taiyuan 030012, Shanxi Province, China. w15834147610@sina.com
Key Words	Gitelman syndrome; SLC12A3; High-throughput sequencing; Bioinformatics analysis; Case report
Core Tip	To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype. Sequencing showed a novel homozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of SLC12A3 gene, which resulted in a substitution of histidine for arginine at position 816 of the LRP1B protein and caused occurrence of disease.
Publish Date	2019-06-26 06:21
Citation	Wang CL. Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report. World J Clin Cases 2019; 7(12): 1522-1528
URL	https://www.wjgnet.com/2307-8960/full/v7/i12/1522.htm
DOI	https://dx.doi.org/10.12998/wjcc.v7.i12.1522

Full Article (PDF)	WJCC-7-1522.pdf
Full Article (Word)	WJCC-7-1522.docx
CARE Checklist–2016	45831-CARE-Checklist–2016-revision.jpg
Manuscript File	FP6826_de16_CE1MS_edit.docx
Answering Reviewers	45831-Answering reviewers.pdf
Audio Core Tip	45831-Audio core tip.MP3
Conflict-of-Interest Disclosure Form	45831-Conflict-of-interest statement.pdf
Copyright License Agreement	45831-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s)	45831-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate	45831-Language certificate.pdf
Peer-review Report	45831-Peer-review(s).pdf
Scientific Misconduct Check	45831-Scientific misconduct check.pdf
Scientific Editor Work List	45831-Scientific editor work list.pdf
CrossCheck Report	45831-CrossCheck Report.pdf