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Factors X Nice I and II: two novel missense mutations (Met-40Val and Pro304Ser) in patient with coagulation factor X deficiency (letter)

机译：因子X Nice I和II：凝血因子X缺乏症患者的两个新的错义突变（Met-40Val和Pro304Ser）（字母）

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来源
《Thrombosis and Haemostasis: Journal of the International Society on Thrombosis and Haemostasis》 |1998年第4期|共2页
作者
Miyata T; Fischer F; Umeyama H; Appert A; Jambou D; Kato H;
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原文格式 PDF
正文语种 eng
中图分类心脏、血管（循环系）疾病;神经病学;
关键词
Factor X; Factor X Deficiency; Mutation; 因子Ⅹ; 因子Ⅹ缺乏; 突变;

机译：Factor X;Factor X Deficiency;Mutation;因子Ⅹ;因子Ⅹ缺乏;突变;

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专利

1. Factors X Nice I and II: two novel missense mutations (Met-40Val and Pro304Ser) in patient with coagulation factor X deficiency (letter) [J] . Miyata T, Fischer F, Umeyama H, Thrombosis and Haemostasis: Journal of the International Society on Thrombosis and Haemostasis . 1998,第4期

机译：因子X Nice I和II：凝血因子X缺乏症患者的两个新的错义突变（Met-40Val和Pro304Ser）（字母）
2. The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene. [J] . Oldenburg J Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis . 2008,第6期

机译：波兰首例合并凝血因子V和凝血因子VIII缺乏的病例，这是由于MCFD2基因中出现了新的p.Tyr135Asn错义突变。
3. Coagulation and Clinical Features Associated with the Arg304gln Mutation (Factor VII Padua) in the Irf7 Study GroupResponse to Letter to the Editor Regarding "Factor VII Deficiency (Semin Thromb Hemost 2009;35(4):400-406)" [J] . Francesco Bernardi, Alberto Doice, Mirko Pinotti Seminars in Thrombosis and Hemostasis . 2010,第1期

机译：Irf7研究小组中与Arg304gln突变（因子VII帕多瓦）相关的凝血和临床特征致致编者的信：“因子VII缺乏症（Semin Thromb Hemost 2009; 35（4）：400-406）”
4. Factor VII Deficiency:Clinical Manifestation and Molecular Genetics of 718 Subjects with FVII Gene Mutations [C] . F. H. Herrmann, K. Wulff, G. Auerswald, Hemophilia Symposium . 2008

机译：因子vii缺乏：718个受试者的临床表现与FVII基因突变的临床表现和分子遗传学
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. 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) [O] . G. JAYANDHARAN, R. V. SHAJI, S. C. NAIR, 2005

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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