• 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
Engin Mevlut Gozukara, Sikandar G. Khan, Ahmet Metin, Steffen Emmert, David B. Busch, Tala Shahlavi, Donna M. Coleman, Mark Miller, Nonglux Chinsomboon, Miria Stefanini, Kenneth H. Kraemer;
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
Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors
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
Bruno M. Bernardes de Jesus, Magnar Bjoras, Frederic Coin, Jean-Marc Egly;
Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
Mol. Cell. Biol. 28:7225-7235(2008)