Article
Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.
The Journal of investigative dermatology - 1 Jan 1996
Shimizu H, McGrath J A, Christiano A M, Nishikawa T, Uitto J
Abstract excerpt
Mutations within the gene encoding the anchoring fibril protein type VII collagen (COL7A1) have recently been established as the pathogenetic basis for the inherited blistering skin disorder, dystrophic epidermolysis bullosa. We report a patient with a moderately severe phenotype of recessive dys...
Topics
- Base Sequence
- Child, Preschool
- Epidermolysis Bullosa Dystrophica
- Genes, Recessive
- Genotype
- Humans
- Male
- Microscopy, Electron
- Molecular Sequence Data
- Mutation
- Phenotype
- Skin