Ontology highlight
ABSTRACT:
SUBMITTER: Ham KA
PROVIDER: S-EPMC7590164 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Ham Kristin A KA Aung-Htut May Thandar MT Fletcher Sue S Wilton Steve D SD
International journal of molecular sciences 20201018 20
The <i>COL7A1</i> gene encodes homotrimer fibrils essential for anchoring dermal and epidermal layers, and pathogenic mutations in <i>COL7A1</i> can cause recessive or dominant dystrophic epidermolysis bullosa. As a monogenic disease gene, <i>COL7A1</i> 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 <i>COL7A1</i>: many exons, low average intron size, and repetit ...[more]