학술논문
A new SLC12A3founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry
Document Type
Article
Author
Source
Nefrología (English Edition); July-August 2017, Vol. 37 Issue: 4 p423-428, 6p
Subject
Language
ISSN
20132514
Abstract
Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are homozygous for an SLC12A3intron 9 frameshifting mutation (c.1180+1G>T). Some forms of Bartter's syndrome result from mutations in the CLNCKBgene and clinically overlap with GS.