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Article

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

American journal of human genetics - 1 Nov 1996

Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G

Abstract excerpt

A hereditary defect of the distal tubule accounts for the clinical features of Gitelman syndrome (GS), an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Recently, we cloned the cDNA coding for the human Na-Cl thiazide-sensitive cotransporter (TSC; also known as ¿NCCT¿ or ¿SLC12A3¿) as a possible candidate for GS, and Simon et al., independently,...

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Identifiers

PMID: 8900229
PMCID: PMC1914834

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Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.PMID 8900229Read ↗

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.Semantic proximity Read ↗

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

Novel Mutations in Thiazide-Sensitive Na-Cl Cotransporter Gene of Patients with Gitelman's SyndromeSemantic proximity Read ↗

Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.Semantic proximity Read ↗

Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.Semantic proximity Read ↗

The genetic spectrum of Gitelman(-like) syndromesSemantic proximity Read ↗

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.Semantic proximity Read ↗

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.Semantic proximity Read ↗

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.Semantic proximity Read ↗

A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.Semantic proximity Read ↗

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

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