Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.

Tomoko HorinouchiTomohiko YamamuraShogo MinamikawaChina NaganoNana SakakibaraKoichi NakanishiYuko ShimaNaoya MorisadaShinya IshikoYuya AotoHiroaki NagaseHiroki TakedaRini RossantiShingo IshimoriHiroshi KaitoMasafumi MatsuoKazumoto IijimaKandai Nozu

Published in: Molecular genetics & genomic medicine (2020)

The minigene system was shown to be a sensitive assay and a useful tool for investigating the pathogenicity of synonymous variants.

Keyphrases

copy number
high throughput
case report
cystic fibrosis