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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
Témata:
Research Article
On-line přístup: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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