Canlyniadau Chwilio - 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... gan Elena Botta, Tiziana Nardò, Bernard C. Broughton, S. Marinoni, Alan R. Lehmann, Miria Stefanini
Cyhoeddwyd 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 gan 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
Cyhoeddwyd 1997Artigo -
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Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy gan 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
Cyhoeddwyd 2001Artigo -
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Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient gan 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
Cyhoeddwyd 1999Artigo -
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Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients gan 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
Cyhoeddwyd 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 gan 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
Cyhoeddwyd 2001Artigo
Offerynnau Chwilio:
Pynciau Perthynol
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