A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies-Reference-Cited by-同舟云学术

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

Published:2004-01 Issue:1 Volume:65 Page:25-29
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Coto Eliecer,Rodriguez Julian,Jeck Nikola,Alvarez Victoria,Stone Rosario,Loris Cesar,Rodriguez Luis M.,Fischbach Michel,Seyberth Hannsjörg W.,Santos Fernando

Publisher

Elsevier BV

Subject

Nephrology

Reference21 articles.

1. A new familial disorder characterized by hypokalemia and hypomagnesemia;Gitelman;Trans Assoc Am Physicians,1966

2. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter;Simon;Nat Genet,1996

3. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain;Lemmink;Kidney Int,1998

4. Genetic studies of the Roma (Gypsies): A review;Kalaydjieva;BMC Med Genet,2001

5. Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome);Bettinelli;Kidney Int,1995

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