Article
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.
The Journal of investigative dermatology - 1 Jan 1994
Yang J M, Chipev C C, DiGiovanna J J, Bale S J, Marekov L N, Steinert P M, Compton J G
Abstract excerpt
In the autosomal dominant disorder epidermolytic hyperkeratosis, the structural integrity of the keratin intermediate filaments is altered in the suprabasal layers of the epidermis. We and others have used genetic linkage studies and mutation analysis to establish that single amino acid substitutions in either the keratin 1 or keratin 10 chains can cause epidermolytic hyperkeratosis. However, a larger database of...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- Female
- Humans
- Hyperkeratosis, Epidermolytic
- Information Systems
- Keratins
- Male
- Molecular Sequence Data
- Mutation