Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

Fanconi anemia (FA) is a rare genomic instability disorder characterized by progressive bone marrow failure and predisposition to cancer. FA-associated gene products are involved in the repair of DNA interstrand crosslinks (ICLs). Fifteen FA-associated genes have been identified, but the genetic bas...

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Autori principali: Bogliolo, Massimo, Schuster, Beatrice, Stoepker, Chantal, Derkunt, Burak, Su, Yan, Raams, Anja, Trujillo, Juan P., Minguillón, Jordi, Ramírez, María J., Pujol, Roser, Casado, José A., Baños, Rocío, Rio, Paula, Knies, Kerstin, Zúñiga, Sheila, Benítez, Javier, Bueren, Juan A., Jaspers, Nicolaas G.J., Schärer, Orlando D., de Winter, Johan P., Schindler, Detlev, Surrallés, Jordi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3644630/
https://ncbi.nlm.nih.gov/pubmed/23623386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.002
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