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Journal Abstract Search

180 related items for PubMed ID: 9284110

  • 1. Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein.
    Christiano AM, Amano S, Eichenfield LF, Burgeson RE, Uitto J.
    J Invest Dermatol; 1997 Sep; 109(3):390-4. PubMed ID: 9284110
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  • 2. Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.
    Gardella R, Zoppi N, Ferraboli S, Marini D, Tadini G, Barlati S, Colombi M.
    Hum Mutat; 1999 Sep; 13(6):439-52. PubMed ID: 10408773
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  • 3. Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles.
    Yonei N, Ohtani T, Furukawa F.
    J Dermatol; 2006 Nov; 33(11):802-5. PubMed ID: 17073998
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  • 4. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
    Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J.
    J Clin Invest; 1995 Mar; 95(3):1328-34. PubMed ID: 7883979
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  • 5. 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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  • 6. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
    Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y.
    Am J Hum Genet; 1997 Sep 01; 61(3):599-610. PubMed ID: 9326325
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  • 7. Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.
    Koshida S, Tsukamura A, Yanagi T, Nakahara S, Takeuchi Y, Kato T, Tanaka T, Nakano H, Shimizu H.
    Pediatr Int; 2013 Apr 01; 55(2):234-7. PubMed ID: 23679163
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  • 9. Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.
    Hovnanian A, Hilal L, Blanchet-Bardon C, de Prost Y, Christiano AM, Uitto J, Goossens M.
    Am J Hum Genet; 1994 Aug 01; 55(2):289-96. PubMed ID: 8037207
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  • 12. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.
    Ryoo YW, Kim BC, Lee KS.
    J Dermatol Sci; 2001 Jun 01; 26(2):125-32. PubMed ID: 11378329
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  • 16. A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.
    Hilal L, Rochat A, Duquesnoy P, Blanchet-Bardon C, Wechsler J, Martin N, Christiano AM, Barrandon Y, Uitto J, Goossens M.
    Nat Genet; 1993 Nov 01; 5(3):287-93. PubMed ID: 8275094
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  • 18. Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients.
    Woodley DT, Cogan J, Hou Y, Lyu C, Marinkovich MP, Keene D, Chen M.
    J Clin Invest; 2017 Aug 01; 127(8):3028-3038. PubMed ID: 28691931
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  • 20. 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 01; 46(3):169-78. PubMed ID: 17425959
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