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Results: 1-8 |
Results: 8

Authors: BOTTA E NARDO T BROUGHTON BC MARINONI S LEHMANN AR STEFANINI M
Citation: E. Botta et al., 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, American journal of human genetics, 63(4), 1998, pp. 1036-1048

Authors: TAYLOR EM BROUGHTON BC BOTTA E STEFANINI M SARASIN A JASPERS NGJ FAWCETT H HARCOURT SA ARLETT CF LEHMANN AR
Citation: Em. Taylor et al., XERODERMA-PIGMENTOSUM AND TRICHOTHIODYSTROPHY ARE ASSOCIATED WITH DIFFERENT MUTATIONS IN THE XPD (ERCC2) REPAIR TRANSCRIPTION GENE/, Proceedings of the National Academy of Sciences of the United Statesof America, 94(16), 1997, pp. 8658-8663

Authors: BROUGHTON BC STEINGRIMSDOTTIR H LEHMANN AR
Citation: Bc. Broughton et al., 5 POLYMORPHISMS IN THE CODING SEQUENCE OF THE XERODERMA-PIGMENTOSUM GROUP-D GENE, Mutation research. DNA repair, 362(2), 1996, pp. 209-211

Authors: MORIWAKI SI STEFANINI M LEHMANN AR HOEIJMAKERS JHJ ROBBINS JH RAPIN I BOTTA E TANGANELLI B VERMEULEN W BROUGHTON BC KRAEMER KH
Citation: Si. Moriwaki et al., DNA-REPAIR AND ULTRAVIOLET MUTAGENESIS IN CELLS FROM A NEW PATIENT WITH XERODERMA-PIGMENTOSUM GROUP-G AND COCKAYNE-SYNDROME RESEMBLE XERODERMA-PIGMENTOSUM CELLS, Journal of investigative dermatology, 107(4), 1996, pp. 647-653

Authors: TAKAYAMA K SALAZAR EP BROUGHTON BC LEHMANN AR SARASIN A THOMPSON LH WEBER CA
Citation: K. Takayama et al., DEFECTS IN THE DNA-REPAIR AND TRANSCRIPTION GENE ERCC2(XPD) IN TRICHOTHIODYSTROPHY, American journal of human genetics, 58(2), 1996, pp. 263-270

Authors: BROUGHTON BC THOMPSON AF HARCOURT SA VERMEULEN W HOEIJMAKERS JHJ BOTTA E STEFANINI M KING MD WEBER CA COLE J ARLETT CF LEHMANN AR
Citation: Bc. Broughton et al., MOLECULAR AND CELLULAR ANALYSIS OF THE DNA-REPAIR DEFECT IN A PATIENTIN XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-D WHO HAS THE CLINICAL-FEATURES OF XERODERMA-PIGMENTOSUM AND COCKAYNE-SYNDROME, American journal of human genetics, 56(1), 1995, pp. 167-174

Authors: BROUGHTON BC STEINGRIMSDOTTIR H WEBER CA LEHMANN AR
Citation: Bc. Broughton et al., MUTATIONS IN THE XERODERMA-PIGMENTOSUM GROUP-D DNA REPAIR TRANSCRIPTION GENE IN PATIENTS WITH TRICHOTHIODYSTROPHY/, Nature genetics, 7(2), 1994, pp. 189-194

Authors: MURIS DFR VREEKEN K CARR AM BROUGHTON BC LEHMANN AR LOHMAN PHM PASTINK A
Citation: Dfr. Muris et al., CLONING THE RAD51 HOMOLOG OF SCHIZOSACCHAROMYCES-POMBE, Nucleic acids research, 21(19), 1993, pp. 4586-4591
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