Article
Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).
Clinical science (London, England : 1979) - 1 May 2014
Glover Mark, Ware James S, Henry Amanda, Wolley Martin, Walsh Roddy, Wain Louise V, Xu Shengxin, Van't Hoff William G, Tobin Martin D, Hall Ian P, Cook Stuart, Gordon Richard D, Stowasser Michael, O'Shaughnessy Kevin M
Abstract excerpt
The study of families with rare inherited forms of hypo- and hyper-tension has been one of the most successful strategies to probe the molecular pathophysiology of blood pressure control and has revealed dysregulation of distal nephron Na+ reabsorption to be a common mechanism. FHHt (familial hyperkalaemic hypertension; also known as Gordon's syndrome) is a salt-dependent form of hypertension caused by mutations...
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