Article
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
The Journal of clinical investigation - 1 Mar 1995
Christiano A M, Suga Y, Greenspan D S, Ogawa H, 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. In the most severe, dystrophic (scarring) forms of EB, blisters form below the...
Topics
- Adolescent
- Adult
- Alleles
- Base Sequence
- Codon, Terminator
- Collagen
- Epidermolysis Bullosa Dystrophica
- Exons
- Female
- Genes, Recessive
- Humans
- Japan
- Male
- Molecular Sequence Data
- Mutation
- Nuclear Family
- Nucleic Acid Heteroduplexes
- Pedigree