• Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Thr119Pro (c.355A>C); ClinVar=VCV000016584; Zygosity=Homozygous (PubMed=9012405).
  

PubMed=7671243
Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L., Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J., Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
Cancer Res. 55:4325-4332(1995)

PubMed=9012405; PMCID=PMC1712398
Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O., Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Am. J. Hum. Genet. 60:320-329(1997)

PubMed=10332046; DOI=10.1093/hmg/8.6.1125
Riou L., Zeng L., Chevallier-Lagente O., Stary A., Nikaido O., Taieb A., Weeda G., Mezzina M., Sarasin A.
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.
Hum. Mol. Genet. 8:1125-1133(1999)