Article
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
Kidney international - 1 Sept 1998
Lemmink H H, Knoers N V, Károlyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford L M, Goodyer P R, Carel J C, Hermes A, Seyberth H W, Monnens L A, van den Heuvel L P
Abstract excerpt
Gitelman syndrome (familial hypokalemia-hypomagnesemia syndrome) is an autosomal recessive inherited renal disorder characterized by defective tubular reabsorption of magnesium and potassium. In this study a group of 18 unrelated and 2 related Gitelman patients, collected from six different countries have been screened for mutations in the human thiazide-sensitive sodium-chloride cotransporter (SLC12A3) gene....
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