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11/3/2016 3:02:00 PM | Browse: 749 | Download: 1101
Publication Name World Journal of Nephrology
Manuscript ID 25834
Country Italy
Received
2016-03-24 09:32
Peer-Review Started
2016-04-15 10:12
To Make the First Decision
2016-05-13 16:27
Return for Revision
2016-05-16 16:49
Revised
2016-07-21 00:00
Second Decision
2016-09-12 09:51
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2016-09-22 14:34
Articles in Press
2016-09-22 14:34
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2016-10-22 13:23
Publish the Manuscript Online
2016-11-03 15:02
ISSN 2220-6124 (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/
Copyright © The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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 New <i>SLC12A3</i> disease causative mutation of Gitelman’s syndrome
Manuscript Source Invited Manuscript
All Author List Teresa Grillone, Miranda Menniti, Francesco Bombardiere, Marco Flavio Michele Vismara, Stefania Belviso, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano and Emma Colao
Funding Agency and Grant Number
Corresponding Author Rodolfo Iuliano, PhD, Department of Experimental and Clinical Medicine, University of Catanzaro, viale Europa, località Germaneto, 88100 Catanzaro, Italy. iuliano@unicz.it
Key Words Gitelman’s syndrome; Thiazide-sensitive NaCl cotransporter; Frame-shift mutation; Tubulopathy; <i>SLC12A3</i> gene
Core Tip Mutations of <i>SLC12A3</i> gene coding for the thiazide-sensitive NaCl cotrasporter are causative of Gitelman’s syndrome (GS), a tubulopathy transmitted by an autosomal recessive mechanism. This study identifies a new mutation of <i>SLC12A3</i> in two cases of GS. Genetic evidence that this mutation is a disease causative of GS was also reported.
Publish Date 2016-11-03 15:02
Citation Grillone T, Menniti M, Bombardiere F, Vismara MFM, Belviso S, Fabiani F, Perrotti N, Iuliano R, Colao E. New SLC12A3 disease causative mutation of Gitelman’s syndrome. World J Nephrol 2016; 5(6): 551-555
URL http://www.wjgnet.com/2220-6124/full/v5/i6/551.htm
DOI http://dx.doi.org/10.5527/wjn.v5.i6.551
Full Article (PDF) WJN-5-551.pdf
Full Article (Word) WJN-5-551.doc
Manuscript File 25834-Review.docx
Answering Reviewers 25834-Answering reviewers.pdf
Audio Core Tip 25834-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 25834-Conflict-of-interest statement.pdf
Copyright License Agreement 25834-Copyright assignment.pdf
Institutional Review Board Approval Form or Document 25834-Institutional review board statement.pdf
Peer-review Report 25834-Peer-review(s).pdf
Scientific Misconduct Check 25834-Scientific misconduct check.pdf
Scientific Editor Work List 25834-Scientific editor work list.pdf