Article
Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes.
The Journal of investigative dermatology - 1 Nov 1994
Uitto J, Pulkkinen L, Christiano A M
Abstract excerpt
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories, the simplex, junctional, and dystrophic forms, on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. Approaches of molecular biology have demonstrated that these three different forms of EB result from mutations in distinct genes: the simplex forms...
Topics
- Cell Adhesion Molecules
- Collagen
- Epidermolysis Bullosa Dystrophica
- Epidermolysis Bullosa, Junctional
- Genes
- Homozygote
- Humans
- Molecular Biology
- Mutation
- Kalinin