Article
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
Genomics - 1 May 1994
Christiano A M, Anhalt G, Gibbons S, Bauer E A, Uitto J
Abstract excerpt
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. The most severe, dystrophic (scarring) forms of EB demonstrate blister formati...
Topics
- Adult
- Alleles
- Base Sequence
- Codon
- Collagen
- DNA Mutational Analysis
- Epidermolysis Bullosa Dystrophica
- Female
- Genes, Recessive
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Polymerase Chain Reaction
- Terminator Regions, Genetic
- Transcription, Genetic