Abstract
Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder which has no cure and only limited treatments. RDEB is caused by mutations in COL7A1 encoding type VII collagen (C7), the major component of skin anchoring fibrils. Most pathogenic COL7A1 mutations in RDEB are point mutations involving single nucleotides, often resulting in premature termination codons (PTC), leading to nonsense-mediated mRNA decay and no C7 protein expression. Adenine base editing (ABE) mediates A-T to G-C base pair changes and so is particularly suited for correcting PTC mutations which are caused by C>T mutations.
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