Article
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay.
Clinical genetics - 1 Sept 2024
Wang Zhi, Sun Yan, Zhang Yiyin, Zhang Yan, Zhang Ran, Li Changying, Liu Xuyan, Pan Fengjiao, Qiao Dan, Shi Xiaomeng, Zhang Bingying, Xu Ning, Bottillo Irene, Shao Leping
Abstract excerpt
Type IV collagen is an integral component of basement membranes. Mutations in COL4A1, one of the key genes encoding Type IV collagen, can result in a variety of diseases. It is clear that a significant proportion of mutations that affect splicing can cause disease directly or contribute to the susceptibility or severity of disease. Here, we analyzed exonic mutations and intronic mutations described in the COL4A1...
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