Article
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.
The Journal of investigative dermatology - 1 Mar 1997
Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert V P
Abstract excerpt
The KRT5 and KRT14 genes encode the proteins keratin 5 and 14, respectively, which are the primary structural components of the 10-nm intermediate filaments of the mitotic epidermal basal cells. A single mutation in either gene can disrupt the keratin intermediate filament cytoskeleton, resulting...
Topics
- Alleles
- Base Sequence
- DNA Primers
- Epidermolysis Bullosa Simplex
- Exons
- Gene Amplification
- Gene Expression
- Humans
- Introns
- Keratins
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction