Article
Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.
Biochemical and biophysical research communications - 21 Jul 2000
Whittock N V, Eady R A, McGrath J A
Abstract excerpt
Keratins are a family of structurally related proteins that form the intermediate filament cytoskeleton in epithelial cells. Mutations in K1 and K5 result in the autosomal dominant disorders epidermolytic hyperkeratosis/bullous congenital ichthyosiform erythroderma and epidermolysis bullosa simplex, respectively. Most disease-associated mutations are within exons encoding protein domains involved in keratin...
Topics
- Chromosomes, Human, Pair 12
- Cloning, Molecular
- DNA Mutational Analysis
- DNA, Complementary
- Epidermis
- Exons
- Humans
- Introns
- Keratins
- Models, Genetic
- Molecular Sequence Data