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