Article
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.
The Journal of investigative dermatology - 1 Aug 1993
Stephens K, Sybert V P, Wijsman E M, Ehrlich P, Spencer A
Abstract excerpt
Recently, two patients with the Dowling-Meara subtype of epidermolysis bullosa simplex (EBS-DM) were reported with different mutations in codon 125 of the keratin 14 gene. To determine whether these are common mutations, we screened ten EBS-DM patients and their families using single nucleotide p...
Topics
- Amino Acid Sequence
- Base Sequence
- Codon
- Epidermolysis Bullosa Simplex
- Female
- Humans
- Keratins
- Male
- Molecular Sequence Data
- Mutation
- Pedigree