Associated Papers
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.
Mura-Escorche G et al.
Biomedicines, 2023
The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.
Arnous MG et al.
Kidney International Reports, 2023
37284679 (PubMed )
Supplement: mmc1.pdf
Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1.
Sakhi I et al.
Human Mutation, 2021
Select a paper to view details