Associated Papers
Dent's disease: case series from a single center.
Yaşar H et al.
The Turkish Journal of Pediatrics, 2024
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
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_9._Validated_Variantsv2.xlsx › Supplementary_Table_9
Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1.
Tosetto E et al.
Clinical Genetics, 2009
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