A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation|[quest]|

T Ripperger; D Steinemann; G G?hring; J Finke; C M Niemeyer; B Strahm; B Schlegelberger

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A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation|[quest]|

机译：一种新型血小酶杂合种种系RUNX1突变导致家族性MDS相关的AML：这些家族可以作为白血病转化的多学期模型[任务] |

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《Leukemia 》 |2009年第7期| 共3页
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T Ripperger; D Steinemann; G G?hring; J Finke; C M Niemeyer; B Strahm; B Schlegelberger;
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1. AML1/RUNX1 mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies. [J] . Taketani T, Taki T, Takita J, Genes, Chromosomes and Cancer . 2003 ,第1期

机译：AML1 / RUNX1突变很少见，但与AML-M0，获得性三体性21和小儿血液系统恶性肿瘤的白血病转化有关。
2. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. [J] . Owen CJ, Toze CL, Koochin A, Blood: The Journal of the American Society of Hematology . 2008 ,第12期

机译：五个新的谱系具有遗传的RUNX1突变，可导致家族性血小板疾病，并倾向于骨髓恶性肿瘤。
3. T-CELL LYMPHOBLASTIC LYMPHOMA IN A PATIENT WITH FAMILIAL PLATELET DISORDER WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA (FPD/AML) DUE TO A NOVEL GERMLINE RUNX1 MUTATION [J] . Reddivalla Naresh, Guest Erin, Carpenter Shannon Pediatric blood & cancer . 2016 ,第Suppla1期

机译：患有家族性血小板异常的患者中的T细胞淋巴母细胞淋巴瘤，由于新的生殖器官RUNX1突变，容易引起骨髓性白血病（FPD / AML）
4. Extending Mendelian mutation prediction models that predict if one has a disease-causing mutation based on family history of disease. [D] . Katki, Hormuzd A. 2006

机译：扩展孟德尔突变预测模型，该模型可根据疾病家族史预测是否存在致病突变。
5. Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam [O] . Hoa Giang, Vu T Nguyen, Sinh D Nguyen, 2018

机译：在越南使用靶向大规模平行测序检测三代家族性腺瘤性息肉病家庭的杂合种系APC突变
6. High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML [O] . Laura Simon, Jean-François Spinella, Chi-Yuan Yao, 2020

机译：Runx1突变AML患者的种系RUNX1突变的高频

A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation|[quest]|

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