Article
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
European journal of human genetics : EJHG - 1 Apr 1999
Rugg E L, Rachet-Préhu M O, Rochat A, Barrandon Y, Goossens M, Lane E B, Hovnanian A
Abstract excerpt
Epidermolysis bullosa simplex (EBS) arises from mutations within the keratin 5 and 14 (K5 and K14) genes which alter the integrity of basal keratinocytes cytoskeleton. The majority of these defects are missense mutations in the rod domain, whose locations influence the disease severity. We investigated a large family dominantly affected with the Dowling-Meara form of EBS (EBS-DM). Sequencing of amplified and...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Binding Sites
- Epidermolysis Bullosa Simplex
- Female
- Frameshift Mutation
- Genetic Testing
- Humans
- Keratin-14
- Keratins
- Male
- Mice
- Molecular Sequence Data