Identification of a novel R642C mutation in NA/CL cotransporter with Gitelman's syndrome
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference35 articles.
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2. The pathogenetic spectrum of Bartter's syndrome;Stein;Kidney Int,1985
3. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes;Bettinelli;J Pediatr,1992
4. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: A new syndrome;Bartter;Am J Med,1962
5. Low urinary calcium excretion in Bartter's syndrome;Rudin;Scand J Urol Nephrol,1988
Cited by 23 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3;Scientific Reports;2023-08-03
2. Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome;J KOREAN MED SCI;2016
3. Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort;American Journal of Nephrology;2016
4. Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases;Acta Biochimica et Biophysica Sinica;2015-04-04
5. Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in theSLC12A3Gene;Case Reports in Pediatrics;2014
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