Article
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
The Journal of investigative dermatology - 1 Feb 1999
Sørensen C B, Ladekjaer-Mikkelsen A S, Andresen B S, Brandrup F, Veien N K, Buus S K, Anton-Lamprecht I, Kruse T A, Jensen P K, Eiberg H, Bolund L, Gregersen N
Abstract excerpt
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant inherited skin diseases caused by mutations in either the keratin 5 (K5) or the keratin 14 (K14) genes and characterized by development of intraepidermal skin blisters. The three major subtypes of EBS are Weber-Cockayne, Koebner, and Dowling-Meara, of which the Dowling-Meara form is the most severe. We have investigated five large Danish...
Topics
- Denmark
- Epidermolysis Bullosa Simplex
- Family Health
- Female
- Genetic Linkage
- Genotype
- Haplotypes
- Humans
- Keratin-14
- Keratins
- Male
- Mutation
- Pedigree