Article
[Mutational analysis of a thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in a Japanese population--the Iwaki Health Promotion Project].
Rinsho byori. The Japanese journal of clinical pathology - 1 Apr 2009
Yasujima Minoru, Tsutaya Shoji
Abstract excerpt
Mutations in the thiazide-sensitive Na-Cl cotransporter (SLC12A3) are considered to cause Gitelman's syndrome (GS), an autosomal recessive inherited renal tubular disorder. In the present study, to assess the prevalence of 3 SLC12A3 missense mutations(T180K, L849H, and R919C), involving community...
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