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Articles Published Processes
11/3/2016 3:02:00 PM | Browse: 749 | Download: 1101
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Received |
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2016-03-24 09:32 |
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Peer-Review Started |
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2016-04-15 10:12 |
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To Make the First Decision |
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2016-05-13 16:27 |
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Return for Revision |
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2016-05-16 16:49 |
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Revised |
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2016-07-21 00:00 |
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Second Decision |
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2016-09-12 09:51 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2016-09-22 14:34 |
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Articles in Press |
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2016-09-22 14:34 |
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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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2016-10-22 13:23 |
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Publish the Manuscript Online |
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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.
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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 |
New <i>SLC12A3</i> disease causative mutation of Gitelman’s syndrome
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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 |
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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 |
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