Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report

BACKGROUND: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease characterized by tubular disorders at the thick ascending limb of Henle’s loop. It is caused by mutations in the tight junction structural proteins claudin-16 or claudin-19, which...

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Detalles Bibliográficos
Autores principales: Yamaguti, Paulo Marcio, dos Santos, Pollyanna Almeida Costa, Leal, Bruno Sakamoto, Santana, Viviane Brandão Bandeira de Mello, Mazzeu, Juliana Forte, Acevedo, Ana Carolina, Neves, Francisco de Assis Rocha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487846/
https://www.ncbi.nlm.nih.gov/pubmed/26136118
http://dx.doi.org/10.1186/s12882-015-0079-4

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