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
38002082 (PubMed )
Supplement: biomedicines-11-03082-s001.zip › biomedicines-2665667-supplementary.pdf
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.
Gianesello L et al.
Human Genetics, 2021
32860533 (PubMed )
Supplement: 439_2020_2219_MOESM1_ESM.docx
A novel CLCN5 mutation in a boy with asymptomatic proteinuria and focal global glomerulosclerosis.
Valina MR et al.
Clinical Nephrology, 2013
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