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Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk.

作者信息

Rossi Elena, Chiusolo Patrizia, Za Tommaso, Marietti Sara, Ciminello Angela, Leone Giuseppe, De Stefano Valerio

出版信息

Thromb Haemost. 2007 Sep;98(3):695-7.

PMID:17849067
Abstract
摘要

相似文献

1
Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk.一例具有抗凝血酶肝素结合位点变异(47位精氨酸突变为组氨酸)的新型家族病例报告:需要一种自动化的逐步抗凝血酶检测方法来检测血栓形成风险较低的分子变异。
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Homozygous or compound heterozygous qualitative antithrombin III deficiency.纯合子或复合杂合子性抗凝血酶III定性缺乏症。
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Antithrombin heparin binding site deficiency: A challenging diagnosis of a not so benign thrombophilia.抗凝血酶肝素结合位点缺乏症:一种对并非良性的易栓症颇具挑战性的诊断。
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Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.通过翻译后镶嵌现象改善肝素结合抗凝血酶突变的严重程度。
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[Antithrombin deficiency due to heterozygous antithrombin gene mutation and a pedigree study].[杂合子抗凝血酶基因突变所致抗凝血酶缺乏症及家系研究]
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Pharmacogenomics of Cardiovascular Drugs for Atherothrombotic, Thromboembolic and Atherosclerotic Risk.心血管药物的药物基因组学与动脉粥样硬化血栓形成、血栓栓塞和动脉粥样硬化风险
Genes (Basel). 2023 Nov 9;14(11):2057. doi: 10.3390/genes14112057.
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Management of Venous Thromboembolism in Patients with Hereditary Antithrombin Deficiency and Pregnancy: Case Report and Review of the Literature.遗传性抗凝血酶缺乏症患者妊娠期间静脉血栓栓塞的管理:病例报告及文献综述
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Inherited risk factors for venous thromboembolism.
遗传性静脉血栓栓塞症风险因素。
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