Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to malignancies. It results from mutations in one of the 22 known FANC genes. The number of Japanese Fanconi anemia patients with a defined genetic dia...

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Detalles Bibliográficos
Autores principales: Mori, Minako, Hira, Asuka, Yoshida, Kenichi, Muramatsu, Hideki, Okuno, Yusuke, Shiraishi, Yuichi, Anmae, Michiko, Yasuda, Jun, Tadaka, Shu, Kinoshita, Kengo, Osumi, Tomoo, Noguchi, Yasushi, Adachi, Souichi, Kobayashi, Ryoji, Kawabata, Hiroshi, Imai, Kohsuke, Morio, Tomohiro, Tamura, Kazuo, Takaori-Kondo, Akifumi, Yamamoto, Masayuki, Miyano, Satoru, Kojima, Seiji, Ito, Etsuro, Ogawa, Seishi, Matsuo, Keitaro, Yabe, Hiromasa, Yabe, Miharu, Takata, Minoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886416/
https://www.ncbi.nlm.nih.gov/pubmed/30792206
http://dx.doi.org/10.3324/haematol.2018.207241

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