Article
Ion transporter mutations in Gitelman's and Bartter's syndromes.
Current opinion in nephrology and hypertension - 1 Jan 1998
Simon D B, Lifton R P
Abstract excerpt
The application of modern techniques in molecular genetics to classic diseases in clinical nephrology is highlighted by the recent description of the molecular basis of Bartter's and Gitelman's syndromes. A series of detailed studies are described that have resulted in the identification of specific mutations in four different genes, each of which causes hypokalemic alkalosis, salt wasting and hypotension. The...
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