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Article

Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation.

American journal of nephrology - 1 Jan 2009

Coto Eliecer, Arriba Gabriel, García-Castro Mónica, Santos Fernando, Corao Ana I, Díaz Marta, Sánchez Heras Marta, Basterrechea María A, Tallón Serafín, Alvarez Victoria

Abstract excerpt

BACKGROUND: Gitelman's syndrome (GS) is caused by mutations in the SLC12A3. Most of the mutations are rare, making it difficult to establish a genotype-phenotype correlation. Although GS is a recessive disorder, some patients also have an affected parent, suggesting a dominant inheritance. METHODS: We sequenced the 26 coding exons of SLC12A3 in a family in which the proband and her father had a late onset GS. We...

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PMID: 19420906
DOI: 10.1159/000218104

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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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