Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome-Reference-Cited by-同舟云学术

Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome

Published:2014-07-24 Issue:2 Volume:26 Page:271-279
ISSN:1046-6673
Container-title:Journal of the American Society of Nephrology
language:en
Short-container-title:JASN

Author:

Takeuchi Yoichi,Mishima Eikan,Shima Hisato,Akiyama Yasutoshi,Suzuki Chitose,Suzuki Takehiro,Kobayashi Takayasu,Suzuki Yoichi,Nakayama Tomohiro,Takeshima Yasuhiro,Vazquez Norma,Ito Sadayoshi,Gamba Gerardo,Abe Takaaki

Publisher

American Society of Nephrology (ASN)

Subject

Nephrology,General Medicine

Reference29 articles.

1. Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

2. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

3. Functional Expression of Mutations in the Human NaCl Cotransporter: Evidence for Impaired Routing Mechanisms in Gitelman’s Syndrome

4. Transcriptional and Functional Analyses ofSLC12A3Mutations: New Clues for the Pathogenesis of Gitelman Syndrome

5. Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman’s syndrome.;Kunchaparty;Am J Physiol,1999

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