• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg616Pro (c.1847G>C); ClinVar=VCV000329508; Zygosity=Heterozygous (PubMed=7920640; PubMed=8571952).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (PubMed=7920640; PubMed=8571952).
  

PubMed=1372096; DOI=10.1016/0921-8777(92)90074-d
Colin Francis Arlett, Susan A. Harcourt, Jane Cole, Michael H.L. Green, Alexander Vincent Anstey;
A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.
Mutat. Res. 273:127-135(1992)

PubMed=7920640; DOI=10.1038/ng0694-189
Bernard C. Broughton, Herdis Steingrimsdottir, Christine A. Weber, Alan R. Lehmann;
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
Nat. Genet. 7:189-194(1994)

PubMed=8571952; PMCID=PMC1914548
Kyoko Takayama, Edmund P. Salazar, Bernard C. Broughton, Alan R. Lehmann, Alain Sarasin, Lawrence H. Thompson, Christine A. Weber;
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Am. J. Hum. Genet. 58:263-270(1996)