Article
Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.
The Journal of investigative dermatology - 1 Feb 1996
Chan Y M, Cheng J, Gedde-Dahl T, Niemi K M, Fuchs E
Abstract excerpt
The epidermis serves an important protective function, which it manifests by producing an extensive cytoskeletal architecture, the unique feature of which are keratin filaments. Through studies that began with epidermolysis bullosa simplex (EBS) and now extend to a group of autosomal dominant hum...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Epidermolysis Bullosa Simplex
- Female
- Heterozygote
- Humans
- Keratins
- Molecular Sequence Data
- Mutation
- Point Mutation
- Skin