Article
Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology - 1 Aug 1996
Dunnill M G, McGrath J A, Richards A J, Christiano A M, Uitto J, Pope F M, Eady R A
Abstract excerpt
Recessive dystrophic epidermolysis bullosa is an inherited mechano-bullous disorder of skin and mucous membranes. Ultrastructurally, the disease is characterized by abnormalities of anchoring fibrils, attachment structures below the epidermal basement membrane, composed of type VII collagen. Muta...
Topics
- Adult
- Base Sequence
- Collagen
- Epidermolysis Bullosa Dystrophica
- Fluorescent Antibody Technique, Indirect
- Genes, Recessive
- Humans
- Microscopy, Electron
- Microscopy, Immunoelectron
- Molecular Sequence Data
- Mutation
- Skin