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  • Title: A Japanese case of de novo dominant dystrophic epidermolysis bullosa.
    Author: Matsuba S, Suga Y, Mayuzumi N, Ikeda S, Ogawa H.
    Journal: Clin Exp Dermatol; 2002 Jan; 27(1):56-8. PubMed ID: 11952672.
    Abstract:
    We report a Japanese case of dominant dystrophic epidermolysis bullosa with a de novo mutation in the triple-helical domain of the type VII collagen. Mutation detection revealed a glycine --> aspartic acid substitution at amino acid position 2012 in exon 73 (G2012D). This previously unreported mutation underlies a clinical phenotype of moderately severe, localized skin blistering.
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