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Article

Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.

DNA sequence : the journal of DNA sequencing and mapping - 1 Oct 2007

Fava Cristiano, Montagnana Martina, Rosberg Lena, Burri Philippe, Jönsson Anders, Wanby Pär, Wahrenberg Hans, Hulthén U Lennart, Aurell Mattias, Guidi Gian Cesare, Melander Olle

Abstract excerpt

PURPOSE: Gitelman's syndrome (GS) is an inherited autosomal recessive disorder due to loss of function mutations in the SLC12A3 gene encoding the Na-Cl co-transporter (NCCT), the target of thiazide diuretics. The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild hypotension, hypokalemia, hyperreninemic hyperaldosteronism,...

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Identifiers

PMID: 17654016
DOI: 10.1080/10425170701400456

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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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