• 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
Mariarosaria D'Errico, Eleonora Parlanti, Massimo Teson, Paolo Degan, Tiziana Lemma, Angelo Salvatore Calcagnile, Ivano Iavarone, Pawel Jaruga, Monica Ropolo, Antonia M. Pedrini, Donata Orioli ...Show all 16 authors... , Guido Frosina, Giovanna Zambruno, Miral Dizdaroglu, Miria Stefanini, Eugenia Dogliotti; Show fewer authors
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
Tiziana Nardo, Roberta Oneda, Graciela Spivak, Bruno Vaz, Laurent Mortier, Pierre Thomas, Donata Orioli, Vincent Laugel, Anne Stary, Philip Courtland Hanawalt, Alain Sarasin, Miria Stefanini;
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
Nadege Calmels, Elena Botta, Nan Jia, Heather Fawcett, Tiziana Nardo, Yuka Nakazawa, Manuela Lanzafame, Shinichi Moriwaki, Katsuo Sugita, Masaya Kubota, Cathy Obringer ...Show all 17 authors... , Marie-Aude Spitz, Miria Stefanini, Vincent Laugel, Donata Orioli, Tomoo Ogi, Alan Robert Lehmann; Show fewer authors
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
J. Med. Genet. 55:329-343(2018)