Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa
✍ Scribed by Pendaries, V; Gasc, G; Titeux, M; Leroux, C; Vitezica, Z G; Mejía, J E; Décha, A; Loiseau, P; Bodemer, C; Prost-Squarcioni, C
- Book ID
- 109855439
- Publisher
- Nature Publishing Group
- Year
- 2010
- Tongue
- English
- Weight
- 358 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0969-7128
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Significant progress has recently been made in understanding the molecular basis of heritable skin diseases, such as epidermolysis bullosa, a group of mechano-bullous genodermatoses. In particular, the dystrophic forms of epidermolysis bullosa have been shown to result from distinct mutations in the
## Communicated by Michel Goossens The Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe inherited skin disease characterized by the absence of collagen type VII (COLVII) and anchoring fibrils (AF), caused by mutations in collagen type VII gene (COL7A1).