• Mutation; HGNC; 12816; XPC; Simple; p.Lys431Argfs*6 (c.1292_1293delAA) (1132_1133delAA); ClinVar=VCV000000256; Zygosity=Homozygous or hemizygous (PubMed=26184184).
  

PubMed=4811796; DOI=10.7326/0003-4819-80-2-221
Robbins J.H., Kraemer K.H., Lutzner M.A., Festoff B.W., Coon H.G.
Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
Ann. Intern. Med. 80:221-248(1974)

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=3724780; DOI=10.1016/0167-8817(86)90043-x
Kantor G.J., Player A.N.
A further definition of characteristics of DNA-excision repair in xeroderma pigmentosum complementation group A strains.
Mutat. Res. 166:79-88(1986)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

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=26184184; DOI=10.3390/ijms160715985
Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)