Article
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
The Journal of clinical investigation - 1 Mar 1992
Ryynänen M, Ryynänen J, Sollberg S, Iozzo R V, Knowlton R G, Uitto J
Abstract excerpt
Epidermolysis bullosa (EB) in a group of genodermatoses characterized by the fragility of skin. Previous studies on the dystrophic (scarring) forms of EB have suggested abnormalities in anchoring fibrils, morphologically recognizable attachment structures that provide stability to the association...
Topics
- Chromosome Mapping
- Collagen
- Epidermolysis Bullosa Dystrophica
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- Humans
- Mutation
- Polymorphism, Restriction Fragment Length