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Article

Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome.

American journal of nephrology - 1 Jan 2016

Liu Ting, Wang Cui, Lu Jingru, Zhao Xiangzhong, Lang Yanhua, Shao Leping

Abstract excerpt

BACKGROUND: Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder, which is caused by the mutations in SLC12A3. This study was designed to analyze the characteristics of the genotype and phenotype, and follow-up in the largest group of Chinese patients with GS. METHODS: Sixty-seven patients with GS underwent SLCl2A3 analysis, and their clinical characteristics and biochemical findings as well...

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PMID: 27529443
DOI: 10.1159/000448694

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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