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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2013
主題:
Report
オンライン･アクセス: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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