• Mutation; 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
Cleaver J.E., Zelle B., Hashem N., El-Hefnawi M.H., German J.L. 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
Klein B., Pastink A., Odijk H., Westerveld A., van der Eb A.J.
Transformation and immortalization of diploid xeroderma pigmentosum fibroblasts.
Exp. Cell Res. 191:256-262(1990)

CLPUB00447
Mulivor R.A., Suchy S.F.
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
Ridley A.J., Colley J., Wynford-Thomas D., Jones C.J.
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
J. Hum. Genet. 50:151-154(2005)