Article
Case-control study of the role of the Gitelman's syndrome gene in essential hypertension.
Endocrine journal - 1 May 2008
Aoi Noriko, Nakayama Tomohiro, Sato Naoyuki, Kosuge Kotoko, Haketa Akira, Sato Mikano, Soma Masayoshi
Abstract excerpt
BACKGROUND: Gitelman's syndrome is an inherited tubular disorder characterized by sodium wasting, low blood pressure, secondary hyperaldosteronism, metabolic alkalosis, hypokalemia, hypomagnesemia of renal origin, and hypocalciuria. The majority of patients with this syndrome carry inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive Na (+)-Cl (-) cotransporter (NCC) located in the distal...
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