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Article

A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 24 Oct 2016

Zhang Y, Zhang F, Chen D, Lü Q, Tang L, Yang C, Lei M, Tong N

Abstract excerpt

Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a...

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Identifiers

PMID: 27783806
DOI: 10.1590/1414-431X20165261
PMCID: PMC5089230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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