Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease

• Main Authors: Blake R. C. Smith (Author), Alexander Nyström (Author), Cameron J. Nowell (Author), Ingrid Hausser (Author), Christine Gretzmeier (Author), Susan J. Robertson (Author), George A. Varigos (Author), Cristina Has (Author), Johannes S. Kern (Author), Ken C. Pang (Author)
• Format: Book
• Published: The Company of Biologists, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Heterozygous missense mutations in the human COL7A1 gene - coding for collagen VII - lead to the rare, dominantly inherited skin disorder dominant dystrophic epidermolysis bullosa (DDEB), which is characterised by skin fragility, blistering, scarring and nail dystrophy. To better understand the path...