Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

Author:

Watanabe Sumiyo,Fukumoto Seiji,Chang Hangil,Takeuchi Yasuhiro,Hasegawa Yukihiro,Okazaki Ryo,Chikatsu Noriko,Fujita Toshiro

Publisher

Elsevier BV

Subject

General Medicine

Reference5 articles.

1. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.;Birkenhager;Nat Genet,2001

2. Extracellular calcium sensing and extracellular calcium signaling.;Brown;Physiol Rev,2001

3. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.;Pearce;N Engl J Med,1996

4. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.;Okazaki;J Clin Endocrinol Metab,1999

5. A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor.;Zhao;FEBS Lett,1999

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