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Journal Abstract Search

418 related items for PubMed ID: 7883979

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  • 4. 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; 13(6):439-52. PubMed ID: 10408773
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  • 5. 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; 61(3):599-610. PubMed ID: 9326325
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  • 7. 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; 26(2):125-32. PubMed ID: 11378329
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  • 8. 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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  • 10. 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; 55(2):234-7. PubMed ID: 23679163
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  • 13. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes.
    Uitto J, Pulkkinen L, Christiano AM.
    J Invest Dermatol; 1994 Nov; 103(5 Suppl):39S-46S. PubMed ID: 7963683
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  • 19. 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; 5(3):287-93. PubMed ID: 8275094
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