• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; Zygosity=Homozygous (PubMed=11511294; PubMed=18809580).
  

PubMed=11511294; DOI=10.1046/j.1523-1747.2001.01424.x
Gozukara E.M., Khan S.G., Metin A., Emmert S., Busch D.B., Shahlavi T., Coleman D.M., Miller M., Chinsomboon N., Stefanini M., Kraemer K.H.
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
J. Invest. Dermatol. 117:197-204(2001)

PubMed=16081512; DOI=10.1093/carcin/bgi204
Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H., Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J., Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A., Kraemer K.H.
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Carcinogenesis 27:84-94(2006)

PubMed=18809580; DOI=10.1128/mcb.00781-08; PMCID=PMC2593387
Bernardes de Jesus B.M., Bjoras M., Coin F., Egly J.-M.
Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
Mol. Cell. Biol. 28:7225-7235(2008)