Article
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
Nature genetics - 1 Oct 1997
Simon D B, Bindra R S, Mansfield T A, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales J M, Sanjad S A, Taylor C M, Pilz D, Brem A, Trachtman H, Griswold W, Richard G A, John E, Lifton R P
Abstract excerpt
Analysis of patients with inherited hypokalaemic alkalosis resulting from salt-wasting has proved fertile ground for identification of essential elements of renal salt homeostasis and blood-pressure regulation. We now demonstrate linkage of this phenotype to a segment of chromosome 1 containing the gene encoding a renal chloride channel, CLCNKB. Examination of this gene reveals loss-of-function mutations that...
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