• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Met1Arg (c.2T>G); ClinVar=VCV001066146; Zygosity=Homozygous (PubMed=18955168).
  

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=12665480; DOI=10.1096/fj.02-0851com
Jing-Sheng Tuo, Pawel Jaruga, Henry Rodriguez, Vilhelm A. Bohr, Miral Dizdaroglu;
Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress.
FASEB J. 17:668-674(2003)

PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007; PMCID=PMC2684809
Sikandar G. Khan, Kyu-Seon Oh, Steffen Emmert, Kyoko Imoto, Deborah Tamura, John Joseph DiGiovanna, Tala Shahlavi, Najealicka Armstrong, Carl C. Baker, Marcy Neuburg, Christopher Zalewski ...Show all 15 authors... , Carmen C. Brewer, Edythe Wiggs, Raphael Schiffmann, Kenneth H. Kraemer; Show fewer authors
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
DNA Repair 8:114-125(2009)