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Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations

Dent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes. CLCN5 encodes the electrogenic chloride/proton exchanger ClC...

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Detalles Bibliográficos
Autores principales:	Anglani, Franca, D’Angelo, Angela, Bertizzolo, Luisa Maria, Tosetto, Enrica, Ceol, Monica, Cremasco, Daniela, Bonfante, Luciana, Addis, Maria Antonietta, Del Prete, Dorella
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2015
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571032/ https://www.ncbi.nlm.nih.gov/pubmed/26389017 http://dx.doi.org/10.1186/s40064-015-1294-y

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