• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg670Trp (c.2008C>T) (C2087T); ClinVar=VCV000190158; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
  
• Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Tyr1179Leufs*22 (c.3536delA) (3615delA); ClinVar=VCV000190167; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=7301938; DOI=10.1111/j.1751-1097.1981.tb09049.x
Rufus S. Day 3rd, Chuck H.J. Ziolkowski, Michael DiMattina;
Decreased host cell reactivation of UV-irradiated adenovirus 5 by fibroblasts from Cockayne's syndrome patients.
Photochem. Photobiol. 34:603-607(1981)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8317483; PMCID=PMC1682247
Wim Vermeulen, Jaak Jaeken, Nicolaas G.J. Jaspers, Dirk Bootsma, Jan Hendrik Jozef Hoeijmakers;
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
Am. J. Hum. Genet. 53:185-192(1993)

PubMed=9443879; DOI=10.1086/301686; PMCID=PMC1376810
Donna L. Mallery, Bianca Tanganelli, Stefano Colella, Herdis Steingrimsdottir, Alain J. van Gool, Christine Troelstra, Miria Stefanini, Alan R. Lehmann;
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Am. J. Hum. Genet. 62:77-85(1998)

DOI=10.21954/ou.ro.0000e27e
Donna L. Mallery;
The identification and analysis of mutation in the Cockayne syndrome B gene.
Thesis PhD (1999); The Open University; Milton Keynes; United Kingdom

PubMed=12665480; DOI=10.1096/fj.02-0851com
Jing-Sheng Tuo, Pawel Jaruga, Henry Rodriguez, Vilhelm A. Bohr, Miral Dizdaroglu;
Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress.
FASEB J. 17:668-674(2003)

PubMed=27543334; DOI=10.1073/pnas.1610020113; PMCID=PMC5018765
Kate S. Reid-Bayliss, Sarah T. Arron, Lawrence A. Loeb, Vladimir Bezrookove, James Edward Cleaver;
Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.
Proc. Natl. Acad. Sci. U.S.A. 113:10151-10156(2016)