Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.
Faculty of Medicine, Department of Medicine, University of South Wales, Sydney, NSW, 2050, Australia.|Department of Dermatology, St George Hospital, Sydney, NSW, 2217, Australia.
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Kim
Faculty of Medicine, Department of Medicine, University of South Wales, Sydney, NSW, 2050, Australia.|Department of Dermatology, St George Hospital, Sydney, NSW, 2217, Australia.
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Harris
Molecular Genetics Laboratory, Department of Pathology, Royal Brisbane and Women's Hospital, Herston, Qld, 4006, Australia.
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Hyland
Faculty of Medicine, Department of Medicine, University of South Wales, Sydney, NSW, 2050, Australia.|Department of Dermatology, St George Hospital, Sydney, NSW, 2217, Australia.
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Murrell
D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D053547:Keratin-14 / Q000235:genetics*; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
C507540:KRT14 protein, human; C503940:KRT5 protein, human; D053547:Keratin-14; D053555:Keratin-5