• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Homozygous (PubMed=15744458).
  

PubMed=7252263; DOI=10.1111/1523-1747.ep12479271
James Edward Cleaver, Bauke Zelle, Nemat Hashem, Mohamed H. El-Hefnawi, James Lafayette German 3rd;
Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology.
J. Invest. Dermatol. 77:96-101(1981)

PubMed=2175267; DOI=10.1016/0014-4827(90)90012-Y
Bernard Klein, Albert Pastink, Hanny Odijk, Andries Westerveld, Alex Jan van der Eb;
Transformation and immortalization of diploid xeroderma pigmentosum fibroblasts.
Exp. Cell Res. 191:256-262(1990)

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

PubMed=15744458; DOI=10.1007/s10038-004-0228-2
Andrew J. Ridley, James Colley, David Wynford-Thomas, Christopher J. Jones;
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
J. Hum. Genet. 50:151-154(2005)