• Mutation; HGNC; HGNC:12816; XPC; Simple; p.Tyr189Serfs*10 (c.564_565AT[1]) (del AT 669-670); ClinVar=VCV000000258; Zygosity=Heterozygous (PubMed=11121128).
  

PubMed=11121128; DOI=10.1046/j.1523-1747.2000.00190.x
Hanoch Slor, Sima Batko, Sikandar G. Khan, Tama Sobe, Steffen Emmert, Arash Khadavi, Azriel Frumkin, David B. Busch, Roberta B. Albert, Kenneth H. Kraemer;
Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.
J. Invest. Dermatol. 115:974-980(2000)

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)