• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Homozygous (PubMed=9238033).
  

PubMed=9238033; DOI=10.1073/pnas.94.16.8658; PMCID=PMC23065
Taylor E.M., Broughton B.C., Botta E., Stefanini M., Sarasin A., Jaspers N.G.J., Fawcett H., Harcourt S.A., Arlett C.F., Lehmann A.R.
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997)

PubMed=14688028; DOI=10.1093/carcin/bgh046
Arbault S., Sojic N., Bruce D., Amatore C., Sarasin A., Vuillaume M.
Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes.
Carcinogenesis 25:509-515(2004)

PubMed=18676829; DOI=10.1158/0008-5472.CAN-07-6695
Chigancas V., de Lima-Bessa K.M., Stary A., Menck C.F.M., Sarasin A.
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.
Cancer Res. 68:6074-6083(2008)