• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (from parent cell line).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (from parent cell line).
  

PubMed=8055625; DOI=10.1093/carcin/15.8.1493
Mauro Mezzina, Eric Eveno, Odile Chevallier-Lagente, Annie Benoit, Madeleine Carreau, Wim Vermeulen, Jan Hendrik Jozef Hoeijmakers, Miria Stefanini, Alan R. Lehmann, Christine A. Weber, Alain Sarasin;
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
Carcinogenesis 15:1493-1498(1994)

PubMed=7563073; DOI=10.1006/jmbi.1995.0519
Claire Marionnet, Annie Benoit, Simone Benhamou, Alain Sarasin, Anne Stary;
Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.
J. Mol. Biol. 252:550-562(1995)

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=8824772; DOI=10.1016/0300-9084(95)90011-x
Eric Eveno, Xavier Quilliet, Odile Chevallier-Lagente, Leela Daya-Grosjean, Anne Stary, Lin Zeng, Annie Benoit, Elena Savini, Giovanni Ciarrocchi, Patricia Kannouche, Bernard Salles ...Show all 13 authors... , Alain Sarasin, Mauro Mezzina; Show fewer authors
Stable SV40-transformation and characterisation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient.
Biochimie 77:906-912(1995)

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)