Article
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology - 1 Apr 1995
McGrath J A, Pulkkinen L, Christiano A M, Leigh I M, Eady R A, Uitto J
Abstract excerpt
The anchoring filament component laminin 5 (kalinin/nicein) is a candidate protein for mutations in some hereditary blistering skin disorders. In this study, laminin 5 expression was assessed in a family with generalized atrophic benign epidermolysis bullosa, a non-lethal variant of the junctional form of epidermolysis bullosa. Immunofluorescence microscopy of the skin basement-membrane zone with a monoclonal...
Topics
- Base Sequence
- Epidermolysis Bullosa, Junctional
- Humans
- Laminin
- Molecular Sequence Data
- Mutation