Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III-Reference-Cited by-同舟云学术

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

Published:1997-10 Issue:2 Volume:17 Page:171-178
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Simon David B.,Bindra Ranjit S.,Mansfield Traci A.,Nelson-Williams Carol,Mendonca Erica,Stone Rosário,Schurman Scott,Nayir Ahmet,Alpay Harika,Bakkaloglu Aysin,Rodriguez-Soriano Juan,Morales Jose M.,Sanjad Sami A.,Taylor C. Mark,Pilz Daniela,Brem Andrew,Trachtman Howard,Griswold William,Richard George A.,John Eunice,Lifton Richard P.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1097-171.pdf

Reference28 articles.

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2. Bettinelli, A. et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J. Pediatr. 120, 38–43 (1992).

3. Matsumoto, J. et al. Hypercalciuric Bartter syndrome: resolution of nephrocalcinosis with indomethacin. Am. J. Roentgenol. 152, 1251–1253 (1989).

4. Simon, D.B. et al. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2CI cotransporter NKCC2. Nature Genet. 13, 183–188 (1996).

5. Simon, D.B. et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nature Genet. 14, 152–156 (1996).

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