Søgeresultater - Bernard C. Broughton

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  1. 1
    Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity

    Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinica... af Elena Botta, Tiziana Nardò, Bernard C. Broughton, S. Marinoni, Alan R. Lehmann, Miria Stefanini

    Udgivet 1998
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  2. 2
    Cells from an immunodeficient patient (46BR) with a defect in DNA ligation are hypomutable but hypersensitive to the induction of sister chromatid exchanges.

    Cells from an immunodeficient patient (46BR) with a defect in DNA ligation are hypomutable but hypersensitive to the induction of sister chromatid exchanges. af L.M. Henderson, C.F. Arlett, Susan A. Harcourt, Alan R. Lehmann, Bernard C. Broughton

    Udgivet 1985
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  3. 3
    Domain structure, localization, and function of DNA polymerase η, defective in xeroderma pigmentosum variant cells

    Domain structure, localization, and function of DNA polymerase η, defective in xeroderma pigmentosum variant cells af Patricia Kannouche, Bernard C. Broughton, Marcel Volker, Fumio Hanaoka, Leon H.F. Mullenders, Alan R. Lehmann

    Udgivet 2001
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  4. 4
    Novel Human and Mouse Homologs of Saccharomyces cerevisiae DNA Polymerase η

    Novel Human and Mouse Homologs of Saccharomyces cerevisiae DNA Polymerase η af John P. McDonald, Vesna Rapić-Otrin, Jonathan A. Epstein, Bernard C. Broughton, Xiangyuan Wang, Alan R. Lehmann, Debra J. Wolgemuth, Roger Woodgate

    Udgivet 1999
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  5. 5
    Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the <i>XPD</i> ( <i>ERCC</i> 2) repair/transcription gene

    Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the <i>XPD</i> ( <i>ERCC</i> 2) repair/transcription gene af Elaine M. Taylor, Bernard C. Broughton, Elena Botta, Miria Stefanini, Alain Sarasin, Nicolaas G.J. Jaspers, Heather Fawcett, Susan A. Harcourt, C.F. Arlett, Alan R. Lehmann

    Udgivet 1997
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  6. 6
    Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

    Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy af Vip Viprakasit, Richard J. Gibbons, Bernard C. Broughton, John Tolmie, David R. Brown, Peter Lunt, R M Winter, S. Marinoni, M Stefanini, L A Brueton, Alan R. Lehmann, Douglas R. Higgs

    Udgivet 2001
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  7. 7
    Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient

    Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient af E Riballo, Susan E. Critchlow, Soo‐Hwang Teo, Aidan J. Doherty, A. Priestley, Bernard C. Broughton, Boris Kysela, Heather Beamish, Nicholas Plowman, C.F. Arlett, A. Lehmann, Stephen P. Jackson, Penny A. Jeggo

    Udgivet 1999
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  8. 8
    Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients

    Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients af Bernard C. Broughton, Agnès Cordonnier, Wim J. Kleijer, Nicolaas G.J. Jaspers, Heather Fawcett, Anja Raams, Victor H. Garritsen, Anne Stary, Marie‐Françoise Avril, François Boudsocq, Chikahide Masutani, Fumio Hanaoka, Robert P. Fuchs, Alain Sarasin, Alan R. Lehmann

    Udgivet 2002
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  9. 9
    Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

    Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene af Bernard C. Broughton, Mark Berneburg, Heather Fawcett, Elaine M. Taylor, C.F. Arlett, Tiziana Nardò, M Stefanini, Emory Menefee, V. H. Price, Sophie Queillé, A Sarasin, E. Bohnert, Jean Krutmann, R Davidson, Kenneth H. Kraemer, Alan R. Lehmann

    Udgivet 2001
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