Article
Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
World journal of pediatrics : WJP - 1 Aug 2015
Martin-Nuñez Ernesto, Cordoba-Lanus Elizabeth, Gonzalez-Acosta Hilaria, Oliet Aniana, Izquierdo Elvira, Claverie-Martin Felix
Abstract excerpt
BACKGROUND: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disease caused by mutations in the CLDN16 or CLDN19 gene. Previous studies using microsatellite markers flanking the CLDN19 locus estimated that p.G20D (c.59G>A), a recurrent mutation in Spanish families, is a founder mutation. In the present study, we assessed the haplotype of Spanish patients...
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