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Article

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.

Kidney international - 1 Jan 2004

Coto Eliecer, Rodriguez Julian, Jeck Nikola, Alvarez Victoria, Stone Rosario, Loris Cesar, Rodriguez Luis M, Fischbach Michel, Seyberth Hannsjörg W, Santos Fernando

Abstract excerpt

BACKGROUND: Gitel syndrome is an inherited tubular disorder characterized by metabolic alkalosis, hypokalemia, and hypomagnesemia of renal origin and hypocalciuria. The majority of patients with Gitelman syndrome carry inactivating mutations in the SLC12A3 gene encoding the sodium-chloride cotransporter located in the distal convoluted tubule. The purpose of this study was to investigate the underlying mutation...

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Identifiers

PMID: 14675033
DOI: 10.1111/j.1523-1755.2004.00388.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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