A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (alpha(2)-antiplasmin) deficiency in an Italian patient

Vigano Silvana; DAndrea Giovanna; Della Valle Patrizia; Santacroce Rosa; Margaglione Maurizio; DAngelo Armando

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A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (alpha(2)-antiplasmin) deficiency in an Italian patient

机译：一种新的异位变体，其血红蛋白抑制剂（Alpha（2） - 意大利患者缺乏症

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来源
《Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis 》 |2018年第2018期| 共3页
作者
Vigano Silvana; DAndrea Giovanna; Della Valle Patrizia; Santacroce Rosa; Margaglione Maurizio; DAngelo Armando;
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作者单位

Univ Osped San Raffaele Ist Sci Serv Coagulaz Milan Italy;

Univ Foggia Genet Med Dipartimento Med Clin &

Sperimentale Foggia Italy;

Univ Osped San Raffaele Ist Sci Serv Coagulaz Milan Italy;

Univ Foggia Genet Med Dipartimento Med Clin &

Sperimentale Foggia Italy;

Univ Foggia Genet Med Dipartimento Med Clin &

Sperimentale Foggia Italy;

Univ Osped San Raffaele Ist Sci Serv Coagulaz Milan Italy;

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正文语种 eng
中图分类神经病学 ;
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1. A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (alpha(2)-antiplasmin) deficiency in an Italian patient [J] . Vigano Silvana, DAndrea Giovanna, Della Valle Patrizia, Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis . 2018 ,第期

机译：一种新的异位变体，其血红蛋白抑制剂（Alpha（2） - 意大利患者缺乏症
2. A splicing donor site point mutation in intron 6 of the plasmin inhibitor (alpha2 antiplasmin) gene with heterozygous deficiency and a bleeding tendency. [J] . Hanss MM, Farcis M, Ffrench PO, Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis . 2003 ,第1期

机译：纤溶酶抑制剂（α2抗纤溶酶）基因内含子6的剪接供体位点突变，具有杂合缺陷和出血倾向。
3. Intestinal Wegener's granulomatosis in a patient with severe alpha-1-antitrypsin deficiency resulting from a unique combination of two deficiency alleles (PiZ and PiMProcida). [J] . Lonardo A, Medicina D, Leonelli M, European journal of gastroenterology and hepatology . 2002 ,第12期

机译：患有严重α-1-抗胰蛋白酶缺乏症的患者的肠道韦格纳肉芽肿病，这是由两种缺乏等位基因（PiZ和PiMProcida）的独特组合导致的。
4. Improvement of Haemodynamics by ATl-Antagonists-addition to ACE-inhibitor pretreated Patients with Severe Chronic Heart Failure Based on Coronary Artery Disease [C] . B. Gremmler, K. Kisters, M. Kunert, International Congress on Coronary Artery Disease . 2003

机译：基于冠状动脉疾病的ACE抑制剂预处理患者的ATL-拮抗剂改善血液肿瘤
5. Alpha 2-antiplasmin inhibits the matrix metalloproteinases that mediate plasmin-independent fibrinolysis around human breast cancer cells [D] . Sparks, Avis. 2013

机译：Alpha 2-antiplasmin抑制基质金属蛋白酶，该基质金属蛋白酶介导人乳腺癌细胞周围不依赖纤溶酶的纤维蛋白溶解
6. Soluble fibrin preparations inhibit the reaction of plasmin with alpha 2-macroglobulin. Comparison with alpha 2-antiplasmin and leupeptin. [O] . P K Anonick, S L Gonias 1991

机译：可溶性纤维蛋白制剂抑制纤溶酶与α2-巨球蛋白的反应。与α2-抗纤溶酶和亮肽素的比较。
7. Abnormal fibrinolysis recognized by thromboelastography in a case of severe bleeding with normal coagulation and platelet function, leads to detection of a novel SERPINF2 variant causing severe alpha‐2‐antiplasmin deficiency [O] . Grace Egan, Fred G. Pluthero, Vanessa Bouskill, 2019

机译：在具有正常凝血和血小板函数的严重出血的情况下，通过血栓间隙识别的异常纤维蛋白溶解，导致检测引起严重的α-2-抗血液缺乏的新型Serpinf2变体

A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (alpha(2)-antiplasmin) deficiency in an Italian patient

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