• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg112His (c.335G>A); ClinVar=VCV000016784; Zygosity=Homozygous (PubMed=18676829).
  

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=15009740; DOI=10.1046/j.0022-202X.2004.22226.x
Nishiwaki Y., Kobayashi N., Imoto K., Iwamoto T.-a., Yamamoto A., Katsumi S., Shirai T., Sugiura S., Nakamura Y., Sarasin A., Miyagawa S., Mori T.
Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts.
J. Invest. Dermatol. 122:526-532(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)