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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Main Authors: Claverie-Martín, Félix, García-Nieto, Víctor, Loris, Cesar, Ariceta, Gema, Nadal, Inmaculada, Espinosa, Laura, Fernández-Maseda, Ángeles, Antón-Gamero, Montserrat, Avila, África, Madrid, Álvaro, González-Acosta, Hilaria, Córdoba-Lanus, Elizabeth, Santos, Fernando, Gil-Calvo, Marta, Espino, Mar, García-Martinez, Elena, Sanchez, Ana, Muley, Rafael
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3536807/
https://ncbi.nlm.nih.gov/pubmed/23301036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0053151
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