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Article

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

Journal of the American Society of Nephrology : JASN - 1 Apr 2007

Riveira-Munoz Eva, Chang Qing, Godefroid Nathalie, Hoenderop Joost G, Bindels René J, Dahan Karin, Devuyst Olivier

Abstract excerpt

Gitelman syndrome (GS) is a recessive salt-losing tubulopathy that is caused by mutations in the SLC12A3 gene that encodes the sodium-chloride co-transporter (NCC). GS is characterized by significant inter- and intrafamilial phenotype variability, with early onset and/or severe clinical manifestations in some patients. No correlations between the disease variability and the position/nature of SLC12A3 mutations...

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Identifiers

PMID: 17329572
DOI: 10.1681/ASN.2006101095

Provenance

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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