Article
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
The Journal of investigative dermatology - 1 Sept 1998
Kon A, Pulkkinen L, Ishida-Yamamoto A, Hashimoto I, Uitto J
Abstract excerpt
Mutations in the type VII collagen gene (COL7A1) have been shown to underlie different variants of dystrophic epidermolysis bullosa (DEB). Examination of the genetic database indicates that most of the mutations are family specific, with few recurrent mutations. To facilitate further refinement o...
Topics
- Adult
- Aged
- Base Sequence
- Child
- Child, Preschool
- Collagen
- Epidermolysis Bullosa Dystrophica
- Female
- Genes, Dominant
- Genes, Recessive
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree