Profiling the mutational landscape of coagulation factor V deficiency.
作者信息
Paraboschi Elvezia Maria, Menegatti Marzia, Rimoldi Valeria, Borhany Munira, Abdelwahab Magy, Gemmati Donato, Peyvandi Flora, Duga Stefano, Asselta Rosanna
机构信息
Department of Biomedical Sciences, Humanitas University, Milan, Italy.
Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, and Luigi Villa Foundation, Milan, Italy.
出版信息
Haematologica. 2020 Apr;105(4):e180-e185. doi: 10.3324/haematol.2019.232587. Epub 2019 Aug 8.
Abstract
摘要
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本文引用的文献
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Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.纤维蛋白原为多效蛋白导致人类疾病：Aα、Bβ 和 γ 链的突变负担。
Int J Mol Sci. 2017 Dec 14;18(12):2711. doi: 10.3390/ijms18122711.
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Exploring the global landscape of genetic variation in coagulation factor XI deficiency.探索凝血因子 XI 缺乏症的全球遗传变异景观。
Blood. 2017 Jul 27;130(4):e1-e6. doi: 10.1182/blood-2017-04-780148. Epub 2017 Jun 14.
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Factor V deficiency.凝血因子V缺乏症
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Inherited defects of coagulation factor V: the hemorrhagic side.凝血因子V的遗传性缺陷：出血方面
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Inherited defects of coagulation Factor V: the thrombotic side.凝血因子V的遗传性缺陷：血栓形成方面
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