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Novel Mutation p.Asp374Val of in a Turkish Family with Inherited Antithrombin Deficiency.

作者信息

Aslan Deniz

机构信息

Gazi University Faculty of Medicine, Department of Pediatrics, Division of Hematology, Ankara, Turkey

出版信息

Turk J Haematol. 2021 Jun 1;38(2):161-163. doi: 10.4274/tjh.galenos.2021.2020.0702. Epub 2021 Jan 6.

DOI:10.4274/tjh.galenos.2021.2020.0702
PMID:33401890
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8171213/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c719/8171213/d70aaad50d49/TJH-38-161-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c719/8171213/5186f9ed1c78/TJH-38-161-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c719/8171213/d70aaad50d49/TJH-38-161-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c719/8171213/5186f9ed1c78/TJH-38-161-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c719/8171213/d70aaad50d49/TJH-38-161-g2.jpg

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本文引用的文献

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Acta Haematol. 2020;143(3):260-265. doi: 10.1159/000502109. Epub 2019 Sep 3.
2
Incidence and features of thrombosis in children with inherited antithrombin deficiency.遗传性抗凝血酶缺陷儿童的血栓形成发生率及特征。
Haematologica. 2019 Dec;104(12):2512-2518. doi: 10.3324/haematol.2018.210666. Epub 2019 Apr 11.
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Natural anticoagulants deficiency and the risk of venous thromboembolism: a meta-analysis of observational studies.
天然抗凝剂缺乏与静脉血栓栓塞风险：观察性研究的荟萃分析
Thromb Res. 2015 May;135(5):923-32. doi: 10.1016/j.thromres.2015.03.010. Epub 2015 Mar 13.
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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Homozygous antithrombin deficiency in adolescents presenting with lower extremity thrombosis and renal complications: two case reports from Turkey.
J Pediatr Hematol Oncol. 2014 Apr;36(3):e190-2. doi: 10.1097/MPH.0000000000000033.
6
Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy.意大利南部抗凝血酶缺陷症患者的分子分析及基因型-表型相关性研究。
Thromb Haemost. 2012 Apr;107(4):673-80. doi: 10.1160/TH11-09-0671. Epub 2012 Mar 8.
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Inherited antithrombin deficiency: a review.遗传性抗凝血酶缺乏症：综述
Haemophilia. 2008 Nov;14(6):1229-39. doi: 10.1111/j.1365-2516.2008.01830.x.
8
Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.抗凝血酶Phe229Leu：一种导致体内抗凝血酶自发聚合的新纯合变异体，与儿童严重血栓形成相关。
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Alpha1-antitrypsin deficiency--a model for conformational diseases.α1-抗胰蛋白酶缺乏症——一种构象性疾病的模型。
N Engl J Med. 2002 Jan 3;346(1):45-53. doi: 10.1056/NEJMra010772.
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