Article
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
American journal of human genetics - 1 Mar 1995
Stephens K, Zlotogorski A, Smith L, Ehrlich P, Wijsman E, Livingston R J, Sybert V P
Abstract excerpt
To explore the relationship between abnormal keratin molecules, 10-nm intermediate filament (IF) organization, and epidermal fragility and blistering, we sought to determine the functional consequences of homozygosity for a dominant keratin defect. We describe a family with an autosomal dominant...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cytoskeleton
- Epidermis
- Epidermolysis Bullosa Simplex
- Female
- Genetic Linkage
- Humans
- Keratins
- Male
- Molecular Sequence Data
- Mutation
- Pedigree