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Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.

Clinical endocrinology - 1 Dec 2015

Li Congcong, Zhou Xinli, Han Wenxia, Jiang Xiuyun, Liu Jia, Fang Li, Wang Hai, Guan Qingbo, Gao Ling, Zhao Jiajun, Xu Jin, Xu Chao

Abstract excerpt

OBJECTIVE: Gitelman syndrome (GS) is one of the most common causes of inherited hypokalaemia. As it was caused by mutations in the SLC12A3 gene, GS is a highly heterogeneous disease. Here, we aimed to investigate the clinical and genetic characteristics of two Chinese pedigrees and summarize the advance in GS genetics, diagnosis and management. SUBJECTS AND METHODS: Two three-generation families with GS were...

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PMID: 25990047
DOI: 10.1111/cen.12820

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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