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Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jul 2004

Maki Nobuki, Komatsuda Atsushi, Wakui Hideki, Ohtani Hiroshi, Kigawa Akihiko, Aiba Namiko, Hamai Keiko, Motegi Mutsuhito, Yamaguchi Akihiko, Imai Hirokazu, Sawada Ken-ichi

Abstract excerpt

BACKGROUND: Gitelman's syndrome (GS) is an autosomal recessive disorder resulting from inactivating mutations in the thiazide-sensitive Na-Cl co-transporter (NCCT) gene. To date, almost 90 mutations have been identified. It is possible that there is a population-specific distribution of mutations...

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PMID: 15069170
DOI: 10.1093/ndt/gfh239

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15069170-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.PMID 15069170Read ↗

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