• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Hypodysfibrinogenemia causing mild bleeding and thrombotic complications in a compound heterozygote of AalphaIVS4+1G>T mutation and Aalpha4841delC truncation (Aalpha(Perth)).在AαIVS4 +1G>T突变和Aα4841delC截短（Aα（珀斯））的复合杂合子中，低纤维蛋白原血症导致轻度出血和血栓形成并发症。
Thromb Haemost. 2009 Apr;101(4):770-2.
2
Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).纤维蛋白原AαIVS4 + 1G>T突变与AαGln328截短（纤维蛋白原基奥库克型）的复合杂合子中的严重低纤维蛋白原血症
Blood. 2004 Apr 1;103(7):2571-6. doi: 10.1182/blood-2003-07-2316. Epub 2003 Nov 13.
3
Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function.克拉科夫纤维蛋白原：纤维蛋白原γ链中的一种新型低/异常纤维蛋白原血症突变（Asn325Ile），影响纤维蛋白凝块的结构和功能。
Thromb Haemost. 2009 May;101(5):975-6.
4
Substitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content.
Thromb Haemost. 2010 Dec;104(6):1274-6. doi: 10.1160/TH10-04-0252. Epub 2010 Sep 13.
5
Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications.低纤维蛋白原血症：一种与出血和血栓并发症相关的新型异常纤维蛋白原。
Clin Chim Acta. 2016 Sep 1;460:55-62. doi: 10.1016/j.cca.2016.06.024. Epub 2016 Jun 22.
6
Adjacent substitutions (γ352Gly→Cys and 353Thr→Pro) in fibrinogen Ilam cause diminished γ chain expression.纤维蛋白原Ilam中的相邻取代（γ352甘氨酸→半胱氨酸和353苏氨酸→脯氨酸）导致γ链表达减少。
Thromb Haemost. 2011 Feb;105(2):379-81. doi: 10.1160/TH10-09-0619. Epub 2010 Nov 5.
7
Congenital (hypo-)dysfibrinogenemia and bleeding: A systematic literature review.先天性（低）纤维蛋白原血症和出血：系统文献回顾。
Thromb Res. 2022 Sep;217:36-47. doi: 10.1016/j.thromres.2022.07.005. Epub 2022 Jul 14.
8
Recurrent VTE in a heterozygote of the fibrinogen Aα IVS4+1G>T and Aα p.Arg168Ter mutation.
Thromb Haemost. 2016 May 2;115(5):1073-5. doi: 10.1160/TH15-10-0818. Epub 2016 Jan 14.
9
Novel Aalpha chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization.新型α链截短（珀斯纤维蛋白原）导致低表达和纤维蛋白原聚合受损。
J Thromb Haemost. 2003 Jun;1(6):1245-50. doi: 10.1046/j.1538-7836.2003.00224.x.
10
Two novel mutations at contiguous codons in the fibrinogen Bbeta chain associated with hypofibrinogenaemia.纤维蛋白原Bβ链中相邻密码子的两个新突变与低纤维蛋白原血症相关。
Thromb Haemost. 2009 May;101(5):980-2.

引用本文的文献

1
The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice.先天性纤维蛋白原缺乏症中的血栓形成悖论：从病理生理学到临床实践
Res Pract Thromb Haemost. 2025 Jul 22;9(5):102979. doi: 10.1016/j.rpth.2025.102979. eCollection 2025 Jul.
2
Pseudohomozygous dysfibrinogenemia.假性纯合子异常纤维蛋白原血症
Res Pract Thromb Haemost. 2021 Aug 21;5(6):e12568. doi: 10.1002/rth2.12568. eCollection 2021 Aug.
3
Fibrinogen αC domain: Its importance in physiopathology.纤维蛋白原αC结构域：其在生理病理学中的重要性。
Res Pract Thromb Haemost. 2019 Feb 15;3(2):173-183. doi: 10.1002/rth2.12183. eCollection 2019 Apr.
4
Increased plasma clot permeability and susceptibility to lysis are associated with heavy menstrual bleeding of unknown cause: a case-control study.血浆凝块通透性增加及对溶解的易感性与不明原因的月经过多相关：一项病例对照研究。
PLoS One. 2015 Apr 24;10(4):e0125069. doi: 10.1371/journal.pone.0125069. eCollection 2015.
5
Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).六个队列研究中欧洲裔美国人和非裔美国人心血管基因 SNP 阵列基因组座与纤维蛋白原水平的关联：候选基因关联资源 (CARe)。
Blood. 2011 Jan 6;117(1):268-75. doi: 10.1182/blood-2010-06-289546. Epub 2010 Oct 26.

本文引用的文献

1
The association of alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism in the LITE study.LITE研究中α-纤维蛋白原Thr312Ala多态性与静脉血栓栓塞的关联
Thromb Res. 2007;121(1):1-7. doi: 10.1016/j.thromres.2007.02.008. Epub 2007 Apr 11.
2
The molecular basis of quantitative fibrinogen disorders.定量纤维蛋白原异常的分子基础。
J Thromb Haemost. 2006 Oct;4(10):2115-29. doi: 10.1111/j.1538-7836.2006.02094.x.
3
Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aalpha chain truncation causing decreased plasma expression and impaired fibrin polymerisation.
Thromb Haemost. 2006 Jul;96(1):88-9. doi: 10.1160/TH05-11-0749.
4
Fibrinogen and fibrin structure and functions.纤维蛋白原和纤维蛋白的结构与功能。
J Thromb Haemost. 2005 Aug;3(8):1894-904. doi: 10.1111/j.1538-7836.2005.01365.x.
5
Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).纤维蛋白原AαIVS4 + 1G>T突变与AαGln328截短（纤维蛋白原基奥库克型）的复合杂合子中的严重低纤维蛋白原血症
Blood. 2004 Apr 1;103(7):2571-6. doi: 10.1182/blood-2003-07-2316. Epub 2003 Nov 13.
6
Novel Aalpha chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization.新型α链截短（珀斯纤维蛋白原）导致低表达和纤维蛋白原聚合受损。
J Thromb Haemost. 2003 Jun;1(6):1245-50. doi: 10.1046/j.1538-7836.2003.00224.x.
7
Functional analysis of the fibrinogen Aalpha Thr312Ala polymorphism: effects on fibrin structure and function.纤维蛋白原Aα链Thr312Ala多态性的功能分析：对纤维蛋白结构和功能的影响
Circulation. 2003 May 13;107(18):2326-30. doi: 10.1161/01.CIR.0000066690.89407.CE. Epub 2003 Apr 21.
8
Dysfibrinogenemia and thrombosis.异常纤维蛋白原血症与血栓形成。
Arch Pathol Lab Med. 2002 Nov;126(11):1387-90. doi: 10.5858/2002-126-1387-DAT.
9
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T.
Blood. 2001 Mar 15;97(6):1879-81. doi: 10.1182/blood.v97.6.1879.
10
Fibrinogen Otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage.奥塔哥纤维蛋白原：一种与严重低纤维蛋白原血症和复发性流产相关的主要α链截断
Br J Haematol. 1997 Sep;98(3):632-9. doi: 10.1046/j.1365-2141.1997.2753090.x.

Hypodysfibrinogenemia causing mild bleeding and thrombotic complications in a compound heterozygote of AalphaIVS4+1G>T mutation and Aalpha4841delC truncation (Aalpha(Perth)).

作者信息

Jayo Asier, Arnold Erin, González-Manchón Consuelo, Green David, Lord Susan T

机构信息

Departmento of Cellular and Molecular Physiopathology, Centro de Inverstigaciones Biológicas (CIB-CSIC), Madrid, Spain.

出版信息

Thromb Haemost. 2009 Apr;101(4):770-2.

PMID:19350124
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2965352/
Abstract
摘要