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Journal Abstract Search

270 related items for PubMed ID: 9215684

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  • 3. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
    Terracina M, Posteraro P, Schubert M, Sonego G, Atzori F, Zambruno G, Bruckner-Tuderman L, Castiglia D.
    J Invest Dermatol; 1998 Nov; 111(5):744-50. PubMed ID: 9804332
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  • 4. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
    Dunnill MG, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RA.
    J Invest Dermatol; 1996 Aug; 107(2):171-7. PubMed ID: 8757758
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  • 5. 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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  • 9. Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
    Hammami-Hauasli N, Schumann H, Raghunath M, Kilgus O, Lüthi U, Luger T, Bruckner-Tuderman L.
    J Biol Chem; 1998 Jul 24; 273(30):19228-34. PubMed ID: 9668111
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  • 12. 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 24; 91(3):262-6. PubMed ID: 21448560
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  • 13. 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 24; 61(3):599-610. PubMed ID: 9326325
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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 24; 5(3):287-93. PubMed ID: 8275094
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  • 20. 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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