Two novel mutations of the CLDN16 gene cause familial hypomagnesaemia with hypercalciuria and nephrocalcinosis

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive disease caused by mutations in the CLDN16 or CLDN19 genes, which encode tight junction-associated proteins, claudin-16 and -19. The resultant tubulopathy leads to urinary loss of Mg(2+) and Ca(2+), with subse...

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Pubblicato in:Clin Kidney J
Autori principali: Hanssen, Oriane, Castermans, Emilie, Bovy, Christophe, Weekers, Laurent, Erpicum, Pauline, Dubois, Bernard, Bours, Vincent, Krzesinski, Jean-Marie, Jouret, François
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4377742/
https://ncbi.nlm.nih.gov/pubmed/25852890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfu019
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