Article
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
Proceedings of the National Academy of Sciences of the United States of America - 20 Aug 1996
Uttam J, Hutton E, Coulombe P A, Anton-Lamprecht I, Yu Q C, Gedde-Dahl T, Fine J D, Fuchs E
Abstract excerpt
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical stress-induced degeneration of basal epidermal cells. It is now well-established that the three major subtypes of EBS are genetic disorders of the basal epidermal kera...
Topics
- Alleles
- Base Sequence
- Biopsy
- Epidermolysis Bullosa Simplex
- Female
- Humans
- Keratins
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Skin Pigmentation