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Article

Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome.

Nephron. Physiology - 1 Jan 2008

Shao Leping, Ren Hong, Wang Weiming, Zhang Wen, Feng Xiaopei, Li Xiao, Chen Nan

Abstract excerpt

BACKGROUND: Inactivating mutations of the SLC12A3 gene are the most common cause of Gitelman's syndrome (GS), a disorder inherited as an autosomal recessive trait. In a minority of cases, GS-like phenotypes are caused by mutations in the CLCNKB gene. METHODS: We searched for SLC12A3 and CLCNKB gene mutations in 13 Chinese patients (9 males and 4 females, age 35 +/- 14 years) from 8 unrelated families with the...

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Identifiers

PMID: 18287808
DOI: 10.1159/000117815

Genes

CLCNKB

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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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