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Article

A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.

Genes & genomics - 1 Sept 2020

Yang Minglan, Dong Ying, Tian Jianqing, Yan Li, Chen Yawen, Qiu Huiying, Liu Wei, Hu Yaomin

Abstract excerpt

BACKGROUND: Gitelman syndrome (GS) is a tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis, which is caused by mutations in SLC12A3 gene. OBJECTIVE: The objective of this study was to investigate the mutation of SLC12A3 gene in a pedigree with GS and analyzed the clinical manifestations. METHODS: Next-generation sequencing and Sanger sequencing were performed to...

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Source

Identifiers

PMID: 32712837
DOI: 10.1007/s13258-020-00960-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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