• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000550020; Zygosity=Homozygous (PubMed=10766188).
  

PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6
Wim J. Kleijer, Elizabeth A. de Weerd-Kastelein, Milou L. Sluyter, Wilma Keijzer, Jan de Wit, Dirk Bootsma;
UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes.
Mutat. Res. 20:417-428(1973)

PubMed=4436596; DOI=10.1111/1523-1747.ep12676556
Vazken Movses Der Kaloustian, Elizabeth A. de Weerd-Kastelein, Wim J. Kleijer, Wilma Keijzer, Dirk Bootsma;
The genetic defect in the de Sanctis-Cacchione syndrome.
J. Invest. Dermatol. 63:392-396(1974)

PubMed=1034206; DOI=10.1016/0027-5107(76)90044-0
Elizabeth A. de Weerd-Kastelein, Wilma Keijzer, M. Sabour, Jennifer M. Parrington, Dirk Bootsma;
A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A.
Mutat. Res. 37:307-312(1976)

PubMed=837385
Alan R. Lehmann, Susan Kirk-Bell, Colin Francis Arlett, Susan A. Harcourt, Elizabeth A. de Weerd-Kastelein, Wilma Keijzer, Patrick Hall-Smith;
Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
Cancer Res. 37:904-910(1977)

PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467
Alan D. Andrews, Susanna F. Barrett, Jay H. Robbins;
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

PubMed=7471106
Colin Francis Arlett, Susan A. Harcourt;
Survey of radiosensitivity in a variety of human cell strains.
Cancer Res. 40:926-932(1980)

PubMed=1383811; DOI=10.1016/0921-8777(92)90008-Q
George J. Kantor, Gregory A. Shanower;
A re-examination of the intragenome distribution of repaired sites in proliferating xeroderma pigmentosum complementation group C fibroblasts.
Mutat. Res. 293:55-64(1992)

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)