Article
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.
The Journal of investigative dermatology - 1 Aug 2014
Kiritsi Dimitra, Garcia Marta, Brander Renske, Has Cristina, Meijer Rowdy, Jose Escámez Maria, Kohlhase Jürgen, van den Akker Peter C, Scheffer Hans, Jonkman Marcel F, Del Rio Marcela, Bruckner-Tuderman Leena, Pasmooij Anna M G
Abstract excerpt
Revertant mosaicism has been reported in several inherited diseases, including the genetic skin fragility disorder epidermolysis bullosa (EB). Here, we describe the largest cohort of seven patients with revertant mosaicism and dystrophic EB (DEB), associated with mutations in the COL7A1 gene, and determine the underlying molecular mechanisms. We show that revertant mosaicism occurs both in autosomal dominantly...
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