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- Title
Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex.
- Authors
Han, S.; Cooper, D. N.; Bowden, P. E.
- Abstract
The article focuses on the patients with a heterozygous donor splice site mutation in the KRT14 gene which abolishes normal splicing in and leads to the utilization of a cryptic noncanonical GA donor splice site within exon 4. The heterozygous mutation cosegregated with the epidermal basal cells; Weber-Cockayne clinical phenotype through the pedigree. The mutation also leads to the removal of 18 bp RNA due to the alternative use of an exonic GA cryptic donor splice site.
- Subjects
GENETIC mutation; GENETIC engineering; EXONS (Genetics); EPIDERMIS; PHENOTYPES; RNA
- Publication
British Journal of Dermatology, 2006, Vol 155, Issue 1, p201
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/j.1365-2133.2006.07269.x