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CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations i...

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Autori principali: Kalay, Ersan, Yigit, Gökhan, Aslan, Yakup, Brown, Karen E, Pohl, Esther, Bicknell, Louise S, Kayserili, Hülya, Li, Yun, Tüysüz, Beyhan, Nürnberg, Gudrun, Kiess, Wieland, Koegl, Manfred, Baessmann, Ingelore, Buruk, Kurtulus, Toraman, Bayram, Kayipmaz, Saadettin, Kul, Sibel, Ikbal, Mevlit, Turner, Daniel J, Taylor, Martin S, Aerts, Jan, Scott, Carol, Milstein, Karen, Dollfus, Helene, Wieczorek, Dagmar, Brunner, Han G, Hurles, Matthew, Jackson, Andrew P, Rauch, Anita, Nürnberg, Peter, Karagüzel, Ahmet, Wollnik, Bernd
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3430850/
https://ncbi.nlm.nih.gov/pubmed/21131973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.725
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