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Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.

Endocrine - 1 Apr 2007

Aoi Noriko, Nakayama Tomohiro, Tahira Yoshiko, Haketa Akira, Yabuki Minako, Sekiyama Tadataka, Nakane Chie, Mano Hiroaki, Kawachi Hideomi, Sato Naoyuki, Soma Masayoshi, Matsumoto Kouichi

Abstract excerpt

Gitelman's syndrome is an autosomal recessive disorder marked by salt wasting and hypokalaemia resulting from loss-of-function mutations in the SLC12A3 gene that codes for the thiazide-sensitive Na-Cl cotransporter. Gitelman's syndrome is usually distinguished from Bartter's syndrome by the presence of both hypomagnesaemia and hypocalciuria. Although recent advances in molecular genetics may make it possible to...

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PMID: 17873326
DOI: 10.1007/s12020-007-0024-9

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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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