Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex.
Han
S
S
Department of Dermatology and Institute of Medical Genetics, Cardiff University, Welsh School of Medicine, Heath Park, Cardiff, CF14 4XN, UK. hans@cardiff.ac.uk
Cooper
D N
DN
Bowden
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PE
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
C507540:KRT14 protein, human; D053547:Keratin-14; D022821:RNA Splice Sites; D007633:Keratins