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Article

Functional confirmation of Gitelman's syndrome mutations in Japanese.

Hypertension research : official journal of the Japanese Society of Hypertension - 1 Oct 2005

Naraba Hiroaki, Kokubo Yoshihiro, Tomoike Hitonobu, Iwai Naoharu

Abstract excerpt

Gitelman's syndrome is an autosomal recessive inherited renal tubular disorder resulting from loss-of-function mutations in the thiazide-sensitive sodium chloride cotransporter gene (SLC12A3). We have previously reported that the combined allele frequency for the reported Gitelman's syndrome mutations is 0.0321. However, almost all of the reported Gitelman's syndrome mutations were from case reports without...

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PMID: 16471174
DOI: 10.1291/hypres.28.805

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

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Functional confirmation of Gitelman's syndrome mutations in Japanese.PMID 16471174Read ↗

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Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.Semantic proximity Read ↗

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