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Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa

10 Sept 2024

Abstract excerpt

Recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB) are lethal blistering skin disorders resulting from mutations in genes coding for type VII collagen ( COL7A1 ) and laminin 332 ( LAMA3 , LAMB3 , or LAMC2 ), respectively. In RDEB, 25% of patients harbor nonsense mutations causing premature termination codons (PTCs). In JEB, a majority of mutations in LAMB3 are nonsense...

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PMID: 39391765
DOI: 10.1016/j.omtn.2024.102334

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