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Human RAD50 deficiency: Confirmation of a distinctive phenotype

DNA double‐strand breaks (DSBs) are highly toxic DNA lesions that can lead to chromosomal instability, loss of genes and cancer. The MRE11/RAD50/NBN (MRN) complex is keystone involved in signaling processes inducing the repair of DSB by, for example, in activating pathways leading to homologous reco...

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Detalles Bibliográficos
Autores principales: Ragamin, Aviël, Yigit, Gökhan, Bousset, Kristine, Beleggia, Filippo, Verheijen, Frans W., de Wit, Marie‐Claire Y., Strom, Tim M., Dörk, Thilo, Wollnik, Bernd, Mancini, Grazia M. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318339/
https://www.ncbi.nlm.nih.gov/pubmed/32212377
http://dx.doi.org/10.1002/ajmg.a.61570