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Journal Abstract Search

133 related items for PubMed ID: 9892921

  • 1. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
    Mellerio JE, Salas-Alanis JC, Talamantes ML, Horn H, Tidman MJ, Ashton GH, Eady RA, McGrath JA.
    Br J Dermatol; 1998 Oct; 139(4):730-7. PubMed ID: 9892921
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  • 6. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
    Kon A, McGrath JA, Pulkkinen L, Nomura K, Nakamura T, Maekawa Y, Christiano AM, Hashimoto I, Uitto J.
    J Invest Dermatol; 1997 Feb; 108(2):224-8. PubMed ID: 9008239
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  • 8. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
    Christiano AM, McGrath JA, Tan KC, Uitto J.
    Am J Hum Genet; 1996 Apr; 58(4):671-81. PubMed ID: 8644729
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  • 10. Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.
    Cserhalmi-Friedman PB, Karpati S, Horvath A, Christiano AM.
    Exp Dermatol; 1997 Dec; 6(6):303-7. PubMed ID: 9412818
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  • 11. Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
    Jonkman MF, Moreno G, Rouan F, Oranje AP, Pulkkinen L, Uitto J.
    J Invest Dermatol; 1999 May; 112(5):815-7. PubMed ID: 10233777
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  • 12. Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
    Kon A, Nomura K, Pulkkinen L, Sawamura D, Hashimoto I, Uitto J.
    J Invest Dermatol; 1997 Nov; 109(5):684-7. PubMed ID: 9347800
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  • 13. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.
    Dang N, Klingberg S, Marr P, Murrell DF.
    J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959
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  • 14. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
    Winberg JO, Hammami-Hauasli N, Nilssen O, Anton-Lamprecht I, Naylor SL, Kerbacher K, Zimmermann M, Krajci P, Gedde-Dahl T, Bruckner-Tuderman L.
    Hum Mol Genet; 1997 Jul; 6(7):1125-35. PubMed ID: 9215684
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  • 15. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
    Lee JY, Pulkkinen L, Liu HS, Chen YF, Uitto J.
    J Invest Dermatol; 1997 Jun; 108(6):947-9. PubMed ID: 9182828
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  • 17. 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
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  • 19. A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.
    Mellerio JE, Salas-Alanis JC, Amaya-Guerra M, Tamez E, Ashton GH, Mohammedi R, Eady RA, McGrath JA.
    Exp Dermatol; 1999 Feb; 8(1):22-9. PubMed ID: 10206718
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  • 20. Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
    Nordal EJ, Mecklenbeck S, Hausser I, Skranes J, Bruckner-Tuderman L, Gedde-Dahl T.
    Br J Dermatol; 2001 Jan; 144(1):151-7. PubMed ID: 11167698
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