Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex

Gostyńska, Katarzyna B.Katarzyna B.GostyńskaNijenhuis, MirandaMirandaNijenhuisLemmink, HennyHennyLemminkPas, Hendri H.Hendri H.PasPasmooij, Anna M.G.Anna M.G.PasmooijKernland Lang, Kristin HeleneKristin HeleneKernland LangCastañón, Maria J.Maria J.CastañónWiche, GerhardGerhardWicheJonkman, Marcel F.Marcel F.Jonkman2024-10-252024-10-252015https://boris-portal.unibe.ch/handle/20.500.12422/161405en600 - Technology::610 - Medicine & healthMutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplexarticle10.7892/boris.11573110.1093/hmg/ddv066