• 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

Antithrombin III Padua 2: a single base substitution in exon 2 detected with PCR and direct genomic sequencing.

作者信息

Olds R J, Lane D A, Caso R, Girolami A, Thein S L

机构信息

Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

出版信息

Nucleic Acids Res. 1990 Apr 11;18(7):1926. doi: 10.1093/nar/18.7.1926.

DOI:10.1093/nar/18.7.1926
PMID:2336381
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC330649/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/07fe/330649/f17e0e1af0b2/nar00191-0242-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/07fe/330649/f17e0e1af0b2/nar00191-0242-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/07fe/330649/f17e0e1af0b2/nar00191-0242-a.jpg

相似文献

1
Antithrombin III Padua 2: a single base substitution in exon 2 detected with PCR and direct genomic sequencing.抗凝血酶III帕多瓦2型:通过聚合酶链反应和直接基因组测序在外显子2中检测到的单碱基替换。
Nucleic Acids Res. 1990 Apr 11;18(7):1926. doi: 10.1093/nar/18.7.1926.
2
Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.
Br J Haematol. 1991 Jul;78(3):414-20. doi: 10.1111/j.1365-2141.1991.tb04457.x.
3
Antithrombin III Milano 2: a single base substitution in the thrombin binding domain detected with PCR and direct genomic sequencing.抗凝血酶III米兰2型:通过聚合酶链反应(PCR)和直接基因组测序检测到凝血酶结合域中的单个碱基替换。
Nucleic Acids Res. 1989 Dec 25;17(24):10511. doi: 10.1093/nar/17.24.10511.
4
Antithrombin III Kumamoto: identification of a point mutation and genotype analysis of the family.抗凝血酶III熊本型:一个点突变的鉴定及家系的基因型分析
Thromb Haemost. 1990 Apr 12;63(2):231-4.
5
De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.抗凝血酶III(AT3)基因的新生剪接位点突变导致复发性静脉血栓形成:通过异位转录本分析证实外显子跳跃
Genomics. 1992 Aug;13(4):1359-61. doi: 10.1016/0888-7543(92)90070-9.
6
Molecular basis for antithrombin III type I deficiency: three novel mutations located in exon IV.抗凝血酶III I型缺乏症的分子基础:位于外显子IV的三个新突变
Blood. 1991 Nov 1;78(9):2305-9.
7
Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site.抗凝血酶都柏林(-3缬氨酸----谷氨酸):一种具有异常信号肽酶切割位点的N端变体。
FEBS Lett. 1990 Oct 29;273(1-2):87-90. doi: 10.1016/0014-5793(90)81057-u.
8
CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction.CpG二核苷酸是抗凝血酶III基因中的突变“热点”。使用聚合酶链反应鉴定出12种变体。
Mol Biol Med. 1989 Jun;6(3):239-43.
9
Antithrombin III-Amiens: a new family with an Arg47----Cys inherited variant of antithrombin III with impaired heparin cofactor activity.
Am J Hematol. 1991 Jan;36(1):25-9. doi: 10.1002/ajh.2830360106.
10
Identification of the antithrombin III Kyoto mutation by restriction fragment length polymorphism analysis.通过限制性片段长度多态性分析鉴定抗凝血酶III京都突变体
Int J Hematol. 1995 Jun;61(4):197-204. doi: 10.1016/0925-5710(95)00373-z.

本文引用的文献

1
Antithrombin III (AT III) Padua2: a "new" congenital abnormality with defective heparin co-factor activities but no thrombotic disease.
Blut. 1983 Aug;47(2):93-103. doi: 10.1007/BF02482643.
2
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.使用热稳定DNA聚合酶进行引物引导的DNA酶促扩增。
Science. 1988 Jan 29;239(4839):487-91. doi: 10.1126/science.2448875.
3
Molecular basis of base substitution hotspots in Escherichia coli.大肠杆菌中碱基替换热点的分子基础。
Nature. 1978 Aug 24;274(5673):775-80. doi: 10.1038/274775a0.