Kết quả tìm kiếm - 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... Bằng Elena Botta, Tiziana Nardò, Bernard C. Broughton, S. Marinoni, Alan R. Lehmann, Miria Stefanini
Được phát hành 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 Bằng 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
Được phát hành 1997Artigo -
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Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy Bằng 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
Được phát hành 2001Artigo -
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Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient Bằng 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
Được phát hành 1999Artigo -
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Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients Bằng 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
Được phát hành 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 Bằng 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
Được phát hành 2001Artigo
Công cụ tìm kiếm:
Các môn học liên quan
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