Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families - Wang, Sai; Shao, Yingfei; Wang, Yixiu; Lu, Jingru; Shao, Leping (Frontiers in genetics, 2022)
Keywords: COL4A5; Genetics; missense mutation; mutation detection; splice site variant; x-linked alport syndrome; COL4A5; splice site variant; mutation detection; x-linked alport syndrome; missense mutation