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Items: 3

Select item 56517261.

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

Xiaozhu Wang, Yu Huang, Ming Yan, Jiuwei Li, Changhong Ding, Hong Jin, Fang Fang, Yanling Yang, Baiyan Wu, Dafang Chen

Sci Rep. 2017; 7: 13686. Published online 2017 Oct 20. doi: 10.1038/s41598-017-14034-3

PMCID:: PMC5651726

Abstract Article PDF–3.2M

Select item 48046142.

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal, Blanca Gener, Sophie Julia, Isabel Llano-Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean-Louis Mandel, Vincent Laugel

Orphanet J Rare Dis. 2016; 11: 26. Published online 2016 Mar 22. doi: 10.1186/s13023-016-0408-0

PMCID:: PMC4804614

Abstract Article PDF–584K

Select item 26671503.

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

Tiziana Nardo, Roberta Oneda, Graciela Spivak, Bruno Vaz, Laurent Mortier, Pierre Thomas, Donata Orioli, Vincent Laugel, Anne Stary, Philip C. Hanawalt, Alain Sarasin, Miria Stefanini

Proc Natl Acad Sci U S A. 2009 Apr 14; 106(15): 6209–6214. Published online 2009 Mar 27. doi: 10.1073/pnas.0902113106