Novel mutations in theSLC12A3gene causing Gitelman's syndrome in Swedes-Reference-Cited by-同舟云学术

Novel mutations in theSLC12A3gene causing Gitelman's syndrome in Swedes

Published:2007-01 Issue:5 Volume:18 Page:395-399
ISSN:1042-5179
Container-title:DNA Sequence
language:en
Short-container-title:DNA Sequence

Author:

Fava Cristiano,Fava Cristiano,Montagnana Martina,Fava Cristiano,Montagnana Martina,Rosberg Lena,Burri Philippe,Jönsson Anders,Wanby Pär,Wahrenberg Hans,Hulthén U. Lennart,Aurell Mattias,Guidi Gian Cesare,Melander Olle

Publisher

Informa UK Limited

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry

Link

http://www.tandfonline.com/doi/pdf/10.1080/10425170701400456

Reference26 articles.

1. Design and feasibility

2. Cardiovascular risk groups and mortality in an urban Swedish male population: the Malmo Preventive Project

3. Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis

4. A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

5. Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans

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2. Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies;Clinical Genetics;2012-09-27

3. Phenotype–genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome;European Journal of Endocrinology;2011-10

4. Recurrent Deep Intronic Mutations in theSLC12A3Gene Responsible for Gitelman's Syndrome;Clinical Journal of the American Society of Nephrology;2010-11-04

5. Mutational Analysis of CLC-5, Cofilin and CLC-4 in Patients with Dent’s Disease;Nephron Physiology;2009-06-20