机译:一种新形式的遗传血小板减少血小阴癣,由于血栓形成素基因中的功能突变丧失
Department of Internal MedicineIRCCS Policlinico San Matteo Foundation and University of PaviaPavia;
Department of Medical and Surgical SciencePoliclinico Sant'Orsola Malpighi and University of;
Institute for Maternal and Child HealthIRCCS Burlo GarofoloTrieste Italy;
Department of Internal MedicineIRCCS Policlinico San Matteo Foundation and University of PaviaPavia;
Department of Medical and Surgical SciencePoliclinico Sant'Orsola Malpighi and University of;
Department of OncologyAzienda Ospedaliera “Santobono‐Pausilipon”Naples Italy;
Institute for Maternal and Child HealthIRCCS Burlo GarofoloTrieste Italy;
Department of Internal MedicineIRCCS Policlinico San Matteo Foundation and University of PaviaPavia;
Department of Medical and Surgical SciencePoliclinico Sant'Orsola Malpighi and University of;
Institute for Maternal and Child HealthIRCCS Burlo GarofoloTrieste Italy;
platelet genetic diseases; platelets; thrombopoietin; genetic disorders;
机译:一种新形式的遗传性血小板减少因子血小板生成素基因中的单级功能突变损失
机译:PTPRJ中的功能突变突变导致一种新的遗传血小板减少症
机译:来自42个意大利家庭的103名患有GPIbα单等位基因Ala156Val突变(博尔扎诺突变)的遗传性血小板减少症的患者的临床和实验室特征|血液学
机译:Sarcomere蛋白质基因突变和遗传性心脏病:β-心肌肌苷重链突变导致心内膜肌肌瘤和心力衰竭
机译:在功能丧失的不宽容性ActR2基因中的畸形突变通过多种机制抑制血栓形成
机译:来自42个意大利家庭的103名患有GPIbα单等位基因Ala156Val突变(Bolzano突变)的遗传性血小板减少症的患者的临床和实验室特征
机译:血小板生成素基因单等位基因功能突变导致遗传性血小板减少的新形式
机译:与BRCa1和BRCa2之外的卵巢癌易感基因的遗传突变相关的癌症风险。