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Article

Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1

18 Oct 2020

Abstract excerpt

The COL7A1 gene encodes homotrimer fibrils essential for anchoring dermal and epidermal layers, and pathogenic mutations in COL7A1 can cause recessive or dominant dystrophic epidermolysis bullosa. As a monogenic disease gene, COL7A1 constitutes a potential target for antisense oligomer-mediated exon skipping, a therapy applicable to a growing number of other genetic disorders. However, certain characteristics of...

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PMID: 33081018
DOI: 10.3390/ijms21207705

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