Article
Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.
Experimental dermatology - 1 Jan 2000
Pulkkinen L, Uitto J
Abstract excerpt
Epidermolysis bullosa (EB), a heterogeneous group of genodermatoses, is characterized by fragility and blistering of the skin, associated with characteristic extracutaneous manifestations. Based on clinical severity, constellation of the phenotypic manifestations, and the level of tissue separati...
Topics
- Animals
- Antigens, Surface
- Autoantigens
- Carrier Proteins
- Collagen
- Cytoskeletal Proteins
- Desmosomes
- Dystonin
- Epidermolysis Bullosa
- Humans
- Integrin alpha6beta4
- Integrins
- Mutation
- Nerve Tissue Proteins
- Non-Fibrillar Collagens
- Skin
- Collagen Type XVII