Associated Papers
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.
Zhang R et al.
Molecular Genetics & Genomic Medicine, 2024
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.
Omachi K et al.
Iscience, 2022
Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.
Helle OMB et al.
Molecular Genetics & Genomic Medicine, 2020
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
Hertz JM et al.
Human Mutation, 2001
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
Martin P et al.
Journal of the American Society of Nephrology : Jasn, 1998
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