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Journal Abstract Search

408 related items for PubMed ID: 19486043

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  • 6. New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.
    Almaani N, Liu L, Harrison N, Tanaka A, Lai-Cheong J, Mellerio JE, McGrath JA.
    Acta Derm Venereol; 2009; 89(1):6-11. PubMed ID: 19197535
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  • 8. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
    Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J.
    Genomics; 1994 May 01; 21(1):160-8. PubMed ID: 8088783
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  • 9. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
    Dang N, Murrell DF.
    Exp Dermatol; 2008 Jul 01; 17(7):553-68. PubMed ID: 18558993
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  • 10. A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa.
    Jiang W, Bu D, Yang Y, Zhu X.
    Acta Derm Venereol; 2002 Jul 01; 82(3):187-91. PubMed ID: 12353709
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  • 11. Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
    Zhu KJ, Zhu CY, Zhou Y, Fan YM.
    Genet Mol Res; 2014 Sep 12; 13(3):7587-92. PubMed ID: 25222259
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  • 14. An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
    Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA.
    Pediatr Dermatol; 2012 Sep 12; 29(6):725-31. PubMed ID: 22515571
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  • 15. 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 12; 91(3):262-6. PubMed ID: 21448560
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  • 18. 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.
    Drera B, Ritelli M, Tadini G, Zoppi N, Venturini M, Calzavara-Pinton PG, Barlati S, Colombi M.
    J Dermatol Sci; 2009 Mar 12; 53(3):222-5. PubMed ID: 18951764
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  • 19. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
    Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S.
    J Dermatol Sci; 2009 May 12; 54(2):114-20. PubMed ID: 19261445
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  • 20. A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.
    Kraemer L, Wajid M, Christiano AM.
    Eur J Dermatol; 2006 May 12; 16(6):615-9. PubMed ID: 17229600
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