Article
COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents.
International journal of molecular sciences - 22 Feb 2023
Liemberger Bernadette, Bischof Johannes, Ablinger Michael, Hainzl Stefan, Murauer Eva M, Lackner Nina, Ebner Patricia, Kocher Thomas, Nyström Alexander, Wally Verena, Mayr Elisabeth, Guttmann-Gruber Christina, Hofbauer Josefina Piñón, Bauer Johann W, Koller Ulrich
Abstract excerpt
Mutations in the COL7A1 gene lead to malfunction, reduction or complete absence of type VII collagen (C7) in the skin's basement membrane zone (BMZ), impairing skin integrity. In epidermolysis bullosa (EB), more than 800 mutations in COL7A1 have been reported, leading to the dystrophic form of EB (DEB), a severe and rare skin blistering disease associated with a high risk of developing an aggressive form of...
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