• 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
Elaine M. Taylor, Bernard C. Broughton, Elena Botta, Miria Stefanini, Alain Sarasin, Nicolaas G.J. Jaspers, Heather Fawcett, Susan A. Harcourt, Colin Francis Arlett, Alan R. Lehmann;
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
Stephane Arbault, Neso Sojic, Delphine Bruce, Christian Amatore, Alain Sarasin, Monique Vuillaume;
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
Vanessa Chigancas, Keronninn Morino de Lima-Bessa, Anne Stary, Carlos Frederico Martins Menck, Alain Sarasin;
Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.
Cancer Res. 68:6074-6083(2008)