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Article

Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.

Scandinavian journal of clinical and laboratory investigation - 1 Dec 2021

Wang Feng, Guo Manli, Li Jing, Ma Shaogang

Abstract excerpt

Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS). This study aimed to investigate the genetic mutations and clinical features of patients with GS. Four pedigrees (4 GS patients and 14 family members) were enrolled. The symptoms, laboratory results, management, and genotypes were analyzed. Genomic DNA was screened for gene variations using Sanger sequencing. DNA sequences were...

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PMID: 34657521
DOI: 10.1080/00365513.2021.1989715

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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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