Successful abdominal operation without replacement therapy in a patient with combined factor V (FV) and FVIII deficiency due to novel homozygous mutation in LMAN1

Wang A.; Duan Q.; Ding K.; Liu X.; Wu J.; Sun Z.

首页> 外文期刊>Haemophilia: the official journal of the World Federation of Hemophilia >Successful abdominal operation without replacement therapy in a patient with combined factor V (FV) and FVIII deficiency due to novel homozygous mutation in LMAN1

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Successful abdominal operation without replacement therapy in a patient with combined factor V (FV) and FVIII deficiency due to novel homozygous mutation in LMAN1

机译：由于LMAN1的新的纯合突变而导致合并因子V（FV）和FVIII缺乏的患者成功进行了无需替代疗法的腹部手术

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《Haemophilia: the official journal of the World Federation of Hemophilia 》 |2015年第6期| 共3页
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Wang A.; Duan Q.; Ding K.; Liu X.; Wu J.; Sun Z.;
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1. Successful abdominal operation without replacement therapy in a patient with combined factor V (FV) and FVIII deficiency due to novel homozygous mutation in LMAN1 [J] . Wang A., Duan Q., Ding K., Haemophilia: the official journal of the World Federation of Hemophilia . 2015 ,第6期

机译：由于LMAN1的新的纯合突变而导致合并因子V（FV）和FVIII缺乏的患者成功进行了无需替代疗法的腹部手术
2. A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII [J] . ZhuM., DasV., ZhengC., Journal of thrombosis and haemostasis: JTH . 2012 ,第11期

机译：LMAN1中的同义突变会产生异位剪接供体位点，并导致FV和FVIII的联合缺乏
3. Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of alpha1-antitrypsin. [J] . Zhang B, Zheng C, Zhu M, Blood: The Journal of the American Society of Hematology . 2011 ,第12期

机译：缺乏LMAN1的小鼠表现出FV和FVIII缺乏以及α1-抗胰蛋白酶的肝脏蓄积。
4. Investigation of Underlying Reasons of Factor VIM Deficiency in Hemophilia A Patients with Undetectable Mutations in the F8 Gene [C] . O.El-Maarri, C.Klein, J.Schroder, Hemophilia Symposium . 2008

机译：血友病因子vim缺乏症患者F8基因患者
5. Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2 [D] . 鈴木幸子 2019

机译：副血友病和A血友病的偶然一致性导致因子V和VIII的联合缺乏，但不是LMAN1或MCFD2的突变
6. Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1 [O] . Anjan J Patel, Hui-hui Liu, Robert A Lager, -1

机译：由于新的LMAN1杂合突变导致FV和FVIII合并缺乏的患者成功进行经皮冠状动脉介入治疗
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Successful abdominal operation without replacement therapy in a patient with combined factor V (FV) and FVIII deficiency due to novel homozygous mutation in LMAN1

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