Article
IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Sept 1997
Kuster J E, Guarnieri M H, Ault J G, Flaherty L, Swiatek P J
Abstract excerpt
The laminin-5 molecule functions in the attachment of various epithelia to basement membranes. Mutations in the laminin-5-coding genes have been associated with Herlitz junctional epidermolysis bullosa (HJEB), a severe and often lethal blistering disease of humans. Here we report the characteriza...
Topics
- Animals
- Blotting, Northern
- Cell Adhesion Molecules
- Chromosome Mapping
- DNA Transposable Elements
- Disease Models, Animal
- Epidermolysis Bullosa, Junctional
- Female
- Gene Expression Regulation, Developmental
- Male
- Mice
- Mice, Inbred C3H
- Mice, Inbred Strains
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Skin
- Skin Diseases