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Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found.

Kidney & blood pressure research - 1 Jan 2006

Urbanová Markéta, Reiterová Jana, Rysavá Romana, Stekrová Jitka, Merta Miroslav

Abstract excerpt

BACKGROUND: To investigate the genetic cause of inherited hypokalemic metabolic alkalosis associated with Gitelman's syndrome, we searched for mutations in the SLC12A3 gene (thiazide-sensitive NaCl cotransporter) among a set of patients from the Czech Republic and Slovakia. METHODS: We collected...

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PMID: 17159356
DOI: 10.1159/000097777

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17159356-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found.PMID 17159356Read ↗

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