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Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. Two-thirds of cases are associated with inactivating variants in the CLCN5 gene (Dent disease 1, DD1) and a few prese...

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Detalles Bibliográficos
Autores principales:	Mura-Escorche, Glorián, Perdomo-Ramírez, Ana, Ramos-Trujillo, Elena, Trujillo-Frías, Carmen Jane, Claverie-Martín, Félix
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10669864/ https://www.ncbi.nlm.nih.gov/pubmed/38002082 http://dx.doi.org/10.3390/biomedicines11113082

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