Article

Therapeutic base and prime editing of <i>COL7A1</i> mutations in recessive dystrophic epidermolysis bullosa

2021-07-12

Abstract excerpt

<h4>ABSTRACT</h4> 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 mu...

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Literature Corpus work: 31fbc1d5-c886-5a34-9f5d-697f7155bfc8
DOI: 10.1101/2021.07.12.452037

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