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

Characterization of pre-mRNA Splicing Defects Caused by <i>CLCN5</i> and <i>OCRL</i> 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 <i>CLCN5</i> gene (Dent disease 1, D...

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Bibliographic Details
Main Authors: Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Félix Claverie-Martín
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Biomedicines
Subjects:
Dent disease
<i>CLCN5</i>
<i>OCRL</i>
minigene system
bioinformatics analysis
Pre-mRNA splicing
Online Access:https://www.mdpi.com/2227-9059/11/11/3082

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https://www.mdpi.com/2227-9059/11/11/3082

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