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Article

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families.

Pediatric nephrology (Berlin, Germany) - 1 Aug 1996

Lemmink H H, van den Heuvel L P, van Dijk H A, Merkx G F, Smilde T J, Taschner P E, Monnens L A, Hebert S C, Knoers N V

Abstract excerpt

Gitelman syndrome is a mostly autosomal recessive disorder affecting the renal tubular function associated with hypokalemia and hypomagnesemia. Functional studies point to a defect in the distal renal tubule in the thiazide-sensitive, electroneutral sodium-chloride co-transporter (TSC). Based upon the localization of a 2.6 cDNA encoding the human TSC to chromosome 16q13, polymorphic markers spanning the region...

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PMID: 8865231
DOI: 10.1007/s004670050129

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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.

Related research

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Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families.PMID 8865231Read ↗

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

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

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

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.Semantic 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 pedigree analysis of two homozygous mutant Gitelman syndrome cases.Semantic proximity Read ↗

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

[Establishment of genetic testing for Gitelman's syndrome].Semantic proximity Read ↗

Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.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 ↗

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

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