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A Novel Mutation in the Fibrinogen Bβ Chain (c.490G>A; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia

机译：纤维蛋白原Bβ链中的新突变（c.490G> a;外显子3的末端）导致剪接异常并最终导致先天性低纤维蛋白原血症

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Chiaki Taira; Kazuyuki Matsuda; Shinpei Arai; Mitsutoshi Sugano; Takeshi Uehara; Nobuo Okumura;
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机译：一种新型纤维蛋白原γ链突变，p.cys165arg导致γ165cys-bβ227cys二硫键的破坏，最终导致脱氧纤维生成血症
2. Fibrinogen geneva II: A new congenitally abnormal fibrinogen alpha chain (Gly17Asp) with a review of similar mutations resulting in abnormal knob A [J] . CasiniA., DeMaistreE., Casini-StuppiV., Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis . 2014,第3期

机译：纤维蛋白原日内瓦II：一种新的先天性异常的纤维蛋白原α链（Gly17Asp），并综述了导致突节A异常的类似突变
3. Congenital hypofibrinogenemia associated with novel homozygous fibrinogen A alpha and heterozygous B beta chain mutations [J] . Castaman Giancarlo, Rimoldi Valeria, Giacomelli Sofia H., Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis . 2015,第1期

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6. A Novel Mutation in the Fibrinogen Bβ Chain (c.490GA; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia [O] . Chiaki Taira, Kazuyuki Matsuda, Shinpei Arai, 2017

机译：纤维蛋白原Bβ链中的新型突变（c.490G A；第3外显子的末端）导致剪接异常并最终导致先天性低纤维蛋白原血症
7. A novel fibrinogen gamma-chain mutation, p. γAla327Val, causes structural abnormality of D region and ultimately leads to congenital dysfibrinogenemia [O] . Aiqiu Wei, Yangyang Wu, Liqun Xiang, 2020

机译：一种新型纤维蛋白原γ链突变，p。 γAla327Val，导致D区域的结构异常，最终导致先天性血统血症血症

A Novel Mutation in the Fibrinogen Bβ Chain (c.490G>A; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia

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