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Journal Abstract Search

218 related items for PubMed ID: 9740253

  • 1. Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
    Kon A, Pulkkinen L, Ishida-Yamamoto A, Hashimoto I, Uitto J.
    J Invest Dermatol; 1998 Sep; 111(3):534-7. PubMed ID: 9740253
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  • 2. 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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  • 3. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.
    Csikós M, Szocs HI, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, Bruckner-Tuderman L.
    Br J Dermatol; 2005 May; 152(5):879-86. PubMed ID: 15888141
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  • 12. 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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  • 13. Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.
    Mellerio JE, Dunnill MG, Allison W, Ashton GH, Christiano AM, Uitto J, Eady RA, McGrath JA.
    J Invest Dermatol; 1997 Aug; 109(2):246-9. PubMed ID: 9242516
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  • 14. Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.
    Salas-Alanis JC, Mellerio JE, Amaya-Guerra M, Ashton GH, Eady RA, McGrath JA.
    Br J Dermatol; 1998 May; 138(5):852-8. PubMed ID: 9666834
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  • 16. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).
    Christiano AM, LaForgia S, Paller AS, McGuire J, Shimizu H, Uitto J.
    Mol Med; 1996 Jan; 2(1):59-76. PubMed ID: 8900535
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  • 20. A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.
    Gardella R, Barlati S, Zoppi N, Tadini G, Colombi M.
    Hum Mutat; 2000 Sep; 16(3):275. PubMed ID: 10980546
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