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Recurrent Deep Intronic Mutations in theSLC12A3Gene Responsible for Gitelman's Syndrome

  • Published:2010-11-04 Issue:3 Volume:6 Page:630-639
  • ISSN:1555-9041
  • Container-title:Clinical Journal of the American Society of Nephrology
  • language:en
  • Short-container-title:CJASN

Author:

Lo Yi-Fen,Nozu Kandai,Iijima Kazumoto,Morishita Takahiro,Huang Che-Chung,Yang Sung-Sen,Sytwu Huey-Kang,Fang Yu-Wei,Tseng Min-Hua,Lin Shih-Hua

Publisher

American Society of Nephrology (ASN)

Subject

Transplantation,Nephrology,Critical Care and Intensive Care Medicine,Epidemiology

Reference44 articles.

1. A new familial disorder characterized by hypokalemia and hypomagnesemia;Gitelman;Trans Assoc Am Physicians,1996

2. Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life

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

4. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome;Mastroianni;Am J Hum Genet,1996

5. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

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