Article
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
Cell - 20 Sept 1991
Coulombe P A, Hutton M E, Letai A, Hebert A, Paller A S, Fuchs E
Abstract excerpt
Previously we demonstrated that transgenic mice expressing mutant basal epidermal keratin genes exhibited a phenotype resembling a group of autosomal dominant human skin disorders known as epidermolysis bullosa simplex (EBS). EBS diseases affect approximately 1: 50,000 and are of unknown etiology, although all subtypes exhibit blistering arising from basal cell cytolysis. We now demonstrate that two patients with...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Epidermolysis Bullosa Simplex
- Humans
- Intermediate Filaments
- Keratins
- Molecular Sequence Data
- Mutation
- Oligonucleotides
- RNA, Messenger