title: Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex.
authors.affiliation: Department of Dermatology and Institute of Medical Genetics, Cardiff University, Welsh School of Medicine, Heath Park, Cardiff, CF14 4XN, UK. hans@cardiff.ac.uk
authors.forename: S
authors.initials: S
authors.lastname: Han
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
authors.forename: P E
authors.initials: PE
authors.lastname: Bowden
mesh_terms: D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D053547:Keratin-14; D007633:Keratins / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D022821:RNA Splice Sites; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017423:Sequence Analysis, RNA
chemical_list: C507540:KRT14 protein, human; D053547:Keratin-14; D022821:RNA Splice Sites; D007633:Keratins