Article
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
Human molecular genetics - 1 Sept 1995
Christiano A M, Lee J Y, Chen W J, LaForgia S, Uitto J
Abstract excerpt
Pretibial epidermolysis bullosa (PEB) is a rare variant of dominant dystrophic EB (DDEB) in which recurrent blistering with scarring predominantly involves the pretibial skin. Although blistering appears to be localized clinically, electron microscopy of the dermalepidermal junction in patients with PEB reveals anchoring fibril abnormalities that are not restricted to the predilection sites. Furthermore, PEB...
Topics
- Base Sequence
- Chromosomes, Human, Pair 3
- Collagen
- Cysteine
- DNA Primers
- Epidermolysis Bullosa Dystrophica
- Female
- Genetic Linkage
- Glycine
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Point Mutation