Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the CLDN16 and CLDN19 genes. These genes encode the tig...

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Autores principales: Félix Claverie-Martín, Víctor García-Nieto, Cesar Loris, Gema Ariceta, Inmaculada Nadal, Laura Espinosa, Ángeles Fernández-Maseda, Montserrat Antón-Gamero, Africa Avila, Álvaro Madrid, Hilaria González-Acosta, Elizabeth Córdoba-Lanus, Fernando Santos, Marta Gil-Calvo, Mar Espino, Elena García-Martinez, Ana Sanchez, Rafael Muley, RenalTube Group
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2013
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/2c3ebfb9b36c483bb8d72f29164232c0
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