• Mutation; HGNC; HGNC:3439; ERCC8; Simple; c.719-1G>A; dbSNP=rs1239745117; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=29572252).
  

PubMed=17297471; DOI=10.1038/sj.onc.1210232
D'Errico M., Parlanti E., Teson M., Degan P., Lemma T., Calcagnile A.S., Iavarone I., Jaruga P., Ropolo M., Pedrini A.M., Orioli D., Frosina G., Zambruno G., Dizdaroglu M., Stefanini M., Dogliotti E.
The role of CSA in the response to oxidative DNA damage in human cells.
Oncogene 26:4336-4343(2007)

PubMed=19329487; DOI=10.1073/pnas.0902113106; PMCID=PMC2667150
Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P., Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A., Stefanini M.
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009)

PubMed=29572252; DOI=10.1136/jmedgenet-2017-104877
Calmels N., Botta E., Jia N., Fawcett H., Nardo T., Nakazawa Y., Lanzafame M., Moriwaki S., Sugita K., Kubota M., Obringer C., Spitz M.-A., Stefanini M., Laugel V., Orioli D., Ogi T., Lehmann A.R.
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
J. Med. Genet. 55:329-343(2018)