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Article

Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 2006

Riancho Jose A, Saro Gema, Sañudo Carolina, Izquierdo Maria J, Zarrabeitia Maria T

Abstract excerpt

Gitelman syndrome is caused by mutations of the SLC12A3 gene, which encodes the thiazide-sensitive NaCl transporter NCCT. Although several mutations causing Gitelman syndrome have been described, their molecular consequences have been rarely studied. We report a patient with Gitelman syndrome due to a mutation in the GT donor splicing site of intron 9. The analysis of RNA from peripheral blood cells showed a...

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Identifiers

PMID: 16221718
DOI: 10.1093/ndt/gfi093

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells.PMID 16221718Read ↗

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.Semantic proximity Read ↗

Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's 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 ↗

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

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.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 ↗

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

Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport.Semantic proximity Read ↗

Spectrum of mutations in Gitelman syndrome.Semantic proximity Read ↗

Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.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 ↗

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.Semantic proximity Read ↗

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