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[Establishment of genetic testing for Gitelman's syndrome].

Rinsho byori. The Japanese journal of clinical pathology - 1 Feb 2010

Nakayama Tomohiro, Aoi Noriko, Sato Naoyuki, Sato Mikano, Kosuge Kotoko, Izumi Yoichi, Soma Masayoshi, Matsumoto Koichi

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. The human SLC12A3 gene, which is located on chromosome 16, consists of...

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PMID: 20229814

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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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[Establishment of genetic testing for Gitelman's syndrome].PMID 20229814Read ↗

[Advance in genetic research on Gitelman syndrome].Semantic proximity Read ↗

A pedigree analysis of two homozygous mutant Gitelman syndrome cases.Semantic proximity Read ↗

Clinical and genetic analyses of Chinese patients with Gitelman syndrome.Semantic proximity Read ↗

[Clinical significance of thiazide-sensitive Na-Cl cotransporter gene by mutational analysis].Semantic proximity Read ↗

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.Semantic proximity Read ↗

[Mutational analysis of a thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in a Japanese population--the Iwaki Health Promotion Project].Semantic proximity Read ↗

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.Semantic proximity Read ↗

Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.Semantic proximity Read ↗

[Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome].Semantic proximity Read ↗

[Clinical and genetic characteristics of Gitelman syndrome in 5 pedigrees].Semantic proximity Read ↗

[Bartter's syndrome and Gitelman's syndrome: Pathogenesis, pathophysiology, and therapy].Semantic proximity Read ↗

A Case Report: Gitelman Syndrome or Bartter Syndrome?Semantic proximity Read ↗

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