Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa

• Main Authors: Jeroen Bremer (Author), Olivier Bornert (Author), Alexander Nyström (Author), Antoni Gostynski (Author), Marcel F Jonkman (Author), Annemieke Aartsma-Rus (Author), Peter C van den Akker (Author), Anna MG Pasmooij (Author)
• Format: Book
• Published: Elsevier, 2016-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The "generalized severe" form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes upon the slightest trauma. Because...