• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Thr808Valfs*48 (c.2421_2604del184); Zygosity=Heterozygous (PubMed=10766188).
  

PubMed=1911321; DOI=10.1111/j.1365-2133.1991.tb14754.x
Alexander Vincent Anstey, Colin Francis Arlett, Jane Cole, Paul G. Norris, Anne S. Hamblin, Gloria Astrid Limb, Alan R. Lehmann, John D. Wilkinson, M. Turner;
Long-term survival and preservation of natural killer cell activity in a xeroderma pigmentosum patient with spontaneous regression and multiple deposits of malignant melanoma.
Br. J. Dermatol. 125:272-278(1991)

PubMed=1372096; DOI=10.1016/0921-8777(92)90074-d
Colin Francis Arlett, Susan A. Harcourt, Jane Cole, Michael H.L. Green, Alexander Vincent Anstey;
A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.
Mutat. Res. 273:127-135(1992)

PubMed=1372100; DOI=10.1016/0921-8777(92)90078-H
Jane Cole, Colin Francis Arlett, Paul G. Norris, Gabriella Stephens, Alastair P.W. Waugh, David M. Beare, Michael H.L. Green;
Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patients.
Mutat. Res. 273:171-178(1992)

PubMed=7825573; PMCID=PMC1801309
Bernard C. Broughton, Annette F. Thompson, Susan A. Harcourt, Wim Vermeulen, Jan Hendrik Jozef Hoeijmakers, Elena Botta, Miria Stefanini, Mary D. King, Christine A. Weber, Jane Cole, Colin Francis Arlett, Alan R. Lehmann;
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Am. J. Hum. Genet. 56:167-174(1995)

PubMed=10766188
Franz Chavanne, Bernard C. Broughton, Daniela Pietra, Tiziana Nardo, Alison Browitt, Alan R. Lehmann, Miria Stefanini;
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
Cancer Res. 60:1974-1982(2000)