A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry

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Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are homozygous for an SLC12A3 intron 9 frame...

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Bibliographic Details
Main Authors: Helena Gil-Peña, Eliecer Coto, Fernando Santos, Mar Espino, Jose Mª Cea Crespo, Giannis Chantzopoulos, Filadelfia Komianou, Juan Gómez, Belén Alonso, Sara Iglesias, Cyrielle Treard, Rosa Vargas-Poussou
Format: Article
Language:English
Published: Elsevier 2017-07-01
Series:Nefrología (English Edition)
Subjects:
Gitelman's syndrome
SLC12A3 gene
Gypsy patients
Roma genetic background
Online Access:http://www.sciencedirect.com/science/article/pii/S2013251417301165

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http://www.sciencedirect.com/science/article/pii/S2013251417301165

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