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MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations

Germline mutation in GATA2 can lead to GATA2 deficiency characterized by a complex multi-system disorder that can present with many manifestations including variable cytopenias, bone marrow failure, myelodysplastic syndrome/acute myeloid leukemia (MDS/AML), and severe immunodeficiency. Penetrance an...

詳細記述

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書誌詳細
出版年:Leuk Res
主要な著者: McReynolds, Lisa J., Yang, Yanqin, Wong, Hong Yuen, Tang, Jingrong, Zhang, Yubo, Mulé, Matthew P., Daub, Janine, Palmer, Cindy, Foruraghi, Ladan, Liu, Qingguo, Zhu, Jun, Wang, Weixin, West, Robert R., Yohe, Marielle E., Hsu, Amy P., Hickstein, Dennis D., Townsley, Danielle M., Holland, Steven M., Calvo, Katherine R., Hourigan, Christopher S.
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6340496/
https://ncbi.nlm.nih.gov/pubmed/30578959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.leukres.2018.11.013
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