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4. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen PA, Sommerlund M, Hertz JM, Castiglia D. Br J Dermatol; 2011 Sep; 165(3):678-82. PubMed ID: 21574979 [Abstract] [Full Text] [Related]
5. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA. Acta Derm Venereol; 2011 May; 91(3):262-6. PubMed ID: 21448560 [Abstract] [Full Text] [Related]
17. A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. Riedl E, Klausegger A, Bauer JW, Foedinger D, Kittler H. Pediatr Dermatol; 2009 May; 26(1):115-7. PubMed ID: 19250433 [Abstract] [Full Text] [Related]
18. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H. J Dermatol Sci; 2004 May; 34(3):195-200. PubMed ID: 15113589 [Abstract] [Full Text] [Related]