Article
Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
Molecular therapy : the journal of the American Society of Gene Therapy - 3 Aug 2022
Hong Sung-Ah, Kim Song-Ee, Lee A-Young, Hwang Gue-Ho, Kim Jong Hoon, Iwata Hiroaki, Kim Soo-Chan, Bae Sangsu, Lee Sang Eun
Abstract excerpt
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin fragility disorder caused by loss-of-function mutations in the COL7A1 gene, which encodes type VII collagen (C7), a protein that functions in skin adherence. From 36 Korean RDEB patients, we identified a total of 69 pathogenic mutations (40 variants without recurrence), including point mutations (72.5%) and insertion/deletion mutations (27.5%)....
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