Article
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
The British journal of dermatology - 1 Sept 2011
Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen P A, Sommerlund M, Hertz J M, Castiglia D
Abstract excerpt
Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) (OMIM 604129) represents a distinct variant within the DEB clinical spectrum. It is characterized by intense pruritus and distinctive nodular prurigo-like and/or hypertrophic lichenoid lesions mainly localized on the arms, legs and upper shoulders. DEB-Pr is caused by either dominant (DDEB-Pr) or recessive mutations in the COL7A1 gene encoding type VII...
Topics
- Adolescent
- Adult
- Collagen Type VII
- Epidermolysis Bullosa Dystrophica
- Exons
- Female
- Founder Effect
- Heterozygote
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- RNA Splicing