Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation

Haoyu Deng; Wei Shen; Yi Gu; Xiong Ma; Jiwei Zhang; Lan Zhang

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Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation

机译：中国遗传性抗凝血酶缺乏症三例报道：双重新型错义突变，无意义突变和移码突变

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Antithrombin is a plasma protein critical to the regulation of coagulation. It plays a pivotal anticoagulant role by preventing the activation of procoagulant proteinases. Inherited and (or) acquired deficiency of AT is an established risk factor for venous thromboembolism. Sequencing analysis of SERPINC1 gene of three families revealed that Family I had double novel missense mutations (c.134G A&c.342T G), Family II had a nonsense mutation (c.770G A) while Family III had a frameshift mutation (c.800-803del). In addition, all of them had a large number of carriers in their families what was very rare in China.

机译：抗凝血酶是对凝血调节至关重要的血浆蛋白。它通过阻止促凝蛋白酶的活化发挥关键的抗凝作用。 AT的遗传性和（或）获得性缺乏是静脉血栓栓塞的既定危险因素。对三个家族的SERPINC1基因进行测序分析显示，家族I具有双重新的错义突变（c.134G> A＆c.342T> G），家族II具有无意义的突变（c.770G> A），家族III具有移码突变（ c.800-803del）。另外，他们所有人的家中都有很多承运人，这在中国非常罕见。

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来源
《Journal of Thrombosis and Thrombolysis》 |2012年第2期|p.244-250|共7页
作者
Haoyu Deng; Wei Shen; Yi Gu; Xiong Ma; Jiwei Zhang; Lan Zhang;
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作者单位

Department of Vascular Surgery, Shanghai JiaoTong University School of Medicine Renji Hospital, Shanghai, 200127, People’s Republic of China;

Department of Clinical Laboratory, Shanghai JiaoTong University School of Medicine Renji Hospital, Shanghai, 200127, People’s Republic of China;

Department of Clinical Laboratory, Shanghai JiaoTong University School of Medicine Renji Hospital, Shanghai, 200127, People’s Republic of China;

Department of Gastroenterology, Shanghai JiaoTong University School of Medicine Renji Hospital, Shanghai, 200127, People’s Republic of China;

Department of Vascular Surgery, Shanghai JiaoTong University School of Medicine Renji Hospital, Shanghai, 200127, People’s Republic of China;

Department of Vascular Surgery, Shanghai JiaoTong University School of Medicine Renji Hospital, Shanghai, 200127, People’s Republic of China;

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正文语种 eng
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关键词
Antithrombin deficiency; Mutation; SERPINC1; Venous thromboembolism;

机译：抗凝血酶缺乏症;突变;SERPINC1;静脉血栓栓塞;

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专利

1. Three case reports of inherited antithrombin deficiency in China: Double novel missense mutations, a nonsense mutation and a frameshift mutation [J] . DengH., ShenW., GuY., Journal of thrombosis and thrombolysis . 2012,第2期

机译：中国遗传性抗凝血酶缺乏症三例报告：双重新型错义突变，无意义突变和移码突变
2. Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods. [J] . Sekiya A, Morishita E, Karato M, International journal of hematology . 2011,第2期

机译：遗传性抗凝血酶缺乏症的两个病例报告：一个新的移码突变和一个大的缺失，包括使用两种方法检测到的所有七个外显子。
3. Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods [J] . Akiko Sekiya, Eriko Morishita, Megumi Karato, International Journal of Hematology . 2011,第2期

机译：遗传性抗凝血酶缺乏症的两个病例报告：一个新的移码突变和一个大的缺失，包括使用两种方法检测到的所有七个外显子
4. Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure [C] . Mitsuhiro Kamisago, Joachim P. Schmitt, Dennis McNamara, Symposium on heart failure: Molecules, mechanisms and therapeutic targets . 2006

机译：Sarcomere蛋白质基因突变和遗传性心脏病：β-心肌肌苷重链突变导致心内膜肌肌瘤和心力衰竭
5. Computational assessment of somatic missense mutations detected in tumor sequencing studies with cancer-specific high-throughput annotation of somatic mutations (CHASM). [D] . Carter, Hannah. 2012

机译：具有肿瘤特异性高通量体细胞突变（CHASM）的肿瘤测序研究中检测到的体细胞错义突变的计算评估。
6. Gene characteristics predicting missense nonsense and frameshift mutations in tumor samples [O] . Ivan P. Gorlov, Claudio W. Pikielny, Hildreth R. Frost, 2018

机译：预测肿瘤样品中的错义无义和移码突变的基因特征
7. Several Mutations in the Melanocortin-4 Receptor Gene Including a Nonsense and a Frameshift Mutation Associated with Dominantly Inherited Obesity in Humans [O] . A. Hinney, A. Schmidt, K. Nottebom, 1999

机译：Melanocortin-4受体基因中的几种突变，包括废话和与人类中主要遗传肥胖相关的义义和框架突变
8. Complex Frameshift Mutations Mediated by Plasmid pKM101: Mutational MechanismsDeduced from 4-Aminobiphenyl-Induced Mutation Spectra in Salmonella [R] . Levine, J. G., Schaaper, R. M., DeMarini, D. M. 1994

机译：质粒pKm101介导的复杂移码突变：由4-氨基联苯诱导的沙门氏菌突变谱引起的突变机制

Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation

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