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Article

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

Kidney & blood pressure research - 1 Jan 2002

Reissinger Annette, Ludwig Michael, Utsch Boris, Prömse Astrid, Baulmann Johannes, Weisser Burkhard, Vetter Hans, Kramer Herbert J, Bokemeyer Dirk

Abstract excerpt

BACKGROUND: Gitelman's syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be attributable to mutations in the gene encoding the thiazide-sensitive Na/Cl cotransporter (NCCT). Until now, 55 different mutations have been reported and most of the families affected with GS exhibit autosomal recessive inheritance....

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Identifiers

PMID: 12590198
DOI: 10.1159/000068695

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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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Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.PMID 12590198Read ↗

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