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Article

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Oct 2008

Riveira-Munoz Eva, Devuyst Olivier, Belge Hendrica, Jeck Nikola, Strompf Laurence, Vargas-Poussou Rosa, Jeunemaître Xavier, Blanchard Anne, Knoers Nine V, Konrad Martin, Dahan Karin

Abstract excerpt

BACKGROUND: Loss-of-function mutations in SLC12A3 coding for the thiazide-sensitive NaCl cotransporter (NCC) cause Gitelman's syndrome (GS), a recessively inherited salt-losing tubulopathy. Most GS patients are compound heterozygous. However, up to 30% of GS patients carry only a single mutant al...

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PMID: 18469313
DOI: 10.1093/ndt/gfn229

Genes

PVALB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18469313-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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