• Mutation; 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
Kleijer W.J., de Weerd-Kastelein E.A., Sluyter M.L., Keijzer W., de Wit J., Bootsma D.
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
Der Kaloustian V.M., de Weerd-Kastelein E.A., Kleijer W.J., Keijzer W., Bootsma D.
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
de Weerd-Kastelein E.A., Keijzer W., Sabour M., Parrington J.M., Bootsma D.
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
Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A., de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.
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
Andrews A.D., Barrett S.F., Robbins J.H.
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
Arlett C.F., Harcourt S.A.
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
Kantor G.J., Shanower G.A.
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
Chavanne F., Broughton B.C., Pietra D., Nardo T., Browitt A., Lehmann A.R., Stefanini M.
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)