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    M. Saito, T. Masunaga, A. Ishiko, A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa, Clinical and Experimental Dermatology, 2009, 34, 8
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    B.-J. Shi, J. Feng, A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa, Clinical and Experimental Dermatology, 2009, 34, 8
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    B. Drera, G. Floriddia, F. Forzano, S. Barlati, G. Zambruno, M. Colombi, D. Castiglia, Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa, British Journal of Dermatology, 2009, 161, 2
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    B. Drera, M. Ritelli, G. Tadini, N. Zoppi, M. Venturini, P.G. Calzavara-Pinton, S. Barlati, M. Colombi, The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa, Journal of Dermatological Science, 2009, 53, 3, 222

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    H. Schumann, C. Has, J. Kohlhase, L. Bruckner-Tuderman, Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations, British Journal of Dermatology, 2008, 159, 2