Search Results - Bernard C. Broughton
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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... by Elena Botta, Tiziana Nardò, Bernard C. Broughton, S. Marinoni, Alan R. Lehmann, Miria Stefanini
Published 1998Artigo -
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Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the <i>XPD</i> ( <i>ERCC</i> 2) repair/transcription gene by 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
Published 1997Artigo -
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Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy by 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
Published 2001Artigo -
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Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient by 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
Published 1999Artigo -
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Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients by 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
Published 2002Artigo -
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Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene by 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
Published 2001Artigo
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Biology
Genetics
DNA repair
Gene
Molecular biology
Xeroderma pigmentosum
DNA
DNA damage
Nucleotide excision repair
Cell biology
Cockayne syndrome
DNA replication
Helicase
RNA
Transcription factor II H
Allele
Complementation
DNA polymerase
ERCC2
Mutation
Phenotype
Polymerase
Bloom syndrome
Cancer
Chemistry
Chromosome
Compound heterozygosity
DNA Ligases
DNA ligase
DNA polymerase II