Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hy...
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
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Author / Creator
Claverie-Martín, Félix , García-Nieto, Víctor , Loris, Cesar , Ariceta, Gema , Nadal, Inmaculada , Espinosa, Laura , Fernández-Maseda, Ángeles , Antón-Gamero, Montserrat , Avila, Africa , Madrid, Álvaro , González-Acosta, Hilaria , Córdoba-Lanus, Elizabeth , Santos, Fernando , Gil-Calvo, Marta , Espino, Mar , García-Martinez, Elena , Sanchez, Ana , Muley, Rafael and RenalTube Group
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 tight junction proteins claudin-16 and claudin-19, re...
Alternative Titles
Full title
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Authors, Artists and Contributors
Author / Creator
García-Nieto, Víctor
Loris, Cesar
Ariceta, Gema
Nadal, Inmaculada
Espinosa, Laura
Fernández-Maseda, Ángeles
Antón-Gamero, Montserrat
Avila, Africa
Madrid, Álvaro
González-Acosta, Hilaria
Córdoba-Lanus, Elizabeth
Santos, Fernando
Gil-Calvo, Marta
Espino, Mar
García-Martinez, Elena
Sanchez, Ana
Muley, Rafael
RenalTube Group
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1289072385
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1289072385
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0053151
