• 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
Arlett C.F., Harcourt S.A., Cole J., Green M.H.L., Anstey A.V.
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
Broughton B.C., Steingrimsdottir H., Weber C.A., Lehmann A.R.
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
Takayama K., Salazar E.P., Broughton B.C., Lehmann A.R., Sarasin A., Thompson L.H., Weber C.A.
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Am. J. Hum. Genet. 58:263-270(1996)