De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome

Inherited bone-marrow-failure syndromes (IBMFSs) include heterogeneous genetic disorders characterized by bone-marrow failure, congenital anomalies, and an increased risk of malignancy. Many lines of evidence have suggested that p53 activation might be central to the pathogenesis of IBMFSs, includin...

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Publicat a:Am J Hum Genet
Autors principals: Toki, Tsutomu, Yoshida, Kenichi, Wang, RuNan, Nakamura, Sou, Maekawa, Takanobu, Goi, Kumiko, Katoh, Megumi C., Mizuno, Seiya, Sugiyama, Fumihiro, Kanezaki, Rika, Uechi, Tamayo, Nakajima, Yukari, Sato, Yusuke, Okuno, Yusuke, Sato-Otsubo, Aiko, Shiozawa, Yusuke, Kataoka, Keisuke, Shiraishi, Yuichi, Sanada, Masashi, Chiba, Kenichi, Tanaka, Hiroko, Terui, Kiminori, Sato, Tomohiko, Kamio, Takuya, Sakaguchi, Hirotoshi, Ohga, Shouichi, Kuramitsu, Madoka, Hamaguchi, Isao, Ohara, Akira, Kanno, Hitoshi, Miyano, Satoru, Kojima, Seiji, Ishiguro, Akira, Sugita, Kanji, Kenmochi, Naoya, Takahashi, Satoru, Eto, Koji, Ogawa, Seishi, Ito, Etsuro
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2018
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6128301/
https://ncbi.nlm.nih.gov/pubmed/30146126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.07.020
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