Germline variants drive myelodysplastic syndrome in young adults.
作者信息
Feurstein Simone, Churpek Jane E, Walsh Tom, Keel Sioban, Hakkarainen Marja, Schroeder Thomas, Germing Ulrich, Geyh Stefanie, Heuser Michael, Thol Felicitas, Pohlkamp Christian, Haferlach Torsten, Gao Juehua, Owen Carolyn, Goehring Gudrun, Schlegelberger Brigitte, Verma Divij, Krause Daniela S, Gao Guimin, Cronin Tara, Gulsuner Suleyman, Lee Ming, Pritchard Colin C, Subramanian Hari Prasanna, Del Gaudio Daniela, Li Zejuan, Das Soma, Kilpivaara Outi, Wartiovaara-Kautto Ulla, Wang Eunice S, Griffiths Elizabeth A, Döhner Konstanze, Döhner Hartmut, King Mary-Claire, Godley Lucy A
机构信息
Department of Medicine, Section of Hematology/Oncology, The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, IL, USA.
Division of Hematology, Medical Oncology, and Palliative Care, Department of Medicine, The University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
出版信息
Leukemia. 2021 Aug;35(8):2439-2444. doi: 10.1038/s41375-021-01137-0. Epub 2021 Jan 28.
Abstract
摘要
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3
The genomic landscape of pediatric myelodysplastic syndromes.儿科骨髓增生异常综合征的基因组图谱。
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9
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10
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