Article
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Experimental dermatology - 1 Dec 1996
Corden L D, McLean W H
Abstract excerpt
Keratins are heteropolymeric proteins which form the intermediate filament cytoskeleton in epithelial cells. Since 1991, mutations in several keratin genes have been found to cause a variety of human diseases affecting the epidermis and other epithelial structures. Epidermolysis bullosa simplex (...
Topics
- Animals
- Epithelium
- Genes, Recessive
- Genotype
- Humans
- Keratins
- Phenotype
- Point Mutation
- Pseudogenes
- Skin Diseases