Article
Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes.
Current opinion in cell biology - 1 Aug 1998
Simon D B, Lifton R P
Abstract excerpt
The successful merging of modern molecular genetics with basic renal physiology is exemplified by the recent description of the molecular basis of two classic diseases of clinical nephrology; Bartter's and Gitelman's syndromes of inherited hypokalemic alkalosis. Mutations in four different genes have been identified, each of which causes hypokalemic alkalosis, salt wasting and hypotension. These genetic studies...
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