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Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)

机译：两种因子XI缺乏（Val271Leu和Tyr351ser）和患有组合XI的患者和因子IX缺乏（PHE349VAL）的新型致畸突变

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G. JAYANDHARAN; R. V. SHAJI; S. C. NAIR; M. CHANDY; A. SRIVASTAVA;
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1. Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in factor IX activation. [J] . Zivelin A, Ogawa T, Bulvik S, Journal of thrombosis and haemostasis: JTH . 2004 ,第10期

机译：由Gly555突变为Glu导致的严重XI因子缺乏症（因子XI-Glu555）：因子IX激活缺陷的交叉反应物质阳性变异体。
2. Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. [J] . Quelin F, Potentini Esnault C, Peynet J, Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis . 2006 ,第1期

机译：鉴定患有XI因子缺乏症患者的XI因子基因（F11）中的五个新突变。
3. A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency [J] . Bozzao C, Rimoldi V, Asselta R, The FEBS journal . 2007 ,第23期

机译：激活环中一个新的XI因子错义突变（Val371Ile）导致轻度II型XI因子缺乏症
4. Factor XI Deficiency caused by a hitherto unknown Mutation in the Factor XI Gene [C] . B. Maak, F. Bergmann, L. Kgchhan, Hemophilie-Symposion . 2003

机译：因子XI基因中迄今未知突变引起的因子XI缺乏
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. Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency [O] . Seung Jun Choi, Juwon Kim, Kyung-A Lee, 2014

机译：一名凝血因子XI缺乏的韩国患者凝血因子XI基因（F11）的Cys482Trp错义突变。
7. Estratégia anestesiológica para cesariana em paciente portadora de deficiência de fator XI: relato de caso Estrategia anestesiológica para cesárea en paciente portadora de discapacidad de Factor XI: relato de caso Anesthetic strategy for cesarean section in a patient with factor XI deficiency: case report [O] . Norma Sueli P Módolo, Vera Lucia Fernandes de Azevedo, Paulo Sérgio S Santos, 2010

机译：XI因子缺乏患者剖宫产的麻醉策略：病例报告XI因子残疾患者剖宫产的麻醉策略：病例报告
8. Measurements of the B Yields D Form Factors Using the Decay overbar Beta (0) Yields D Plus(xi)(sup -)(overbar upsilon)(sub xi) [R] . Aubert, B. 2006

机译：B收益率D形式因子的测量使用衰变超频Beta（0）收益率D plus（xi）（sup - ）（overbar upilon）（sub xi）

Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)

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