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

PubMed=7671243
Eric Eveno, Francois Bourre, Xavier Quilliet, Odile Chevallier-Lagente, Len Roza, Andre P.M. Eker, Wim J. Kleijer, Osamu Nikaido, Miria Stefanini, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma ...Show all 14 authors... , James Edward Cleaver, Alain Sarasin, Mauro Mezzina; Show fewer authors
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
Yoko Nishiwaki, Nobuhiko Kobayashi, Kyoko Imoto, Taka-aki Iwamoto, Aya Yamamoto, Sachiko Katsumi, Toshihiko Shirai, Shigeki Sugiura, Yu Nakamura, Alain Sarasin, Sachiko Miyagawa, Toshio Mori;
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
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)