| 1 | COL7A1, EBDPR
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| A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa.
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| Ren X, Liu JY, Zhai LY, Yao Q, Dai X, Cai Z, Liu P, Sun K, Huang C, Wang QK, Liu M.
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| Br J Dermatol 158(3):618-20. No abstract available. PMID: 18067480 2008
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| 2 | COL7A1, EBDPR
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| Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.
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| Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M.
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| Clin Genet 70(4):339-47. 2006
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| 3 | COL7A1, EBDPR
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| Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
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| Sawamura D, Mochitomi Y, Kanzaki T, Nakamura H, Shimizu H.
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| Br J Dermatol 155(4):834-7. No abstract available. 2006
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