• 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

Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.

作者信息

Santacroce Rosa, Leccese Angelica, Trunzo Roberta, Lassandro Giuseppe, Giordano Paola, Ettorre Cosimo, Antoncecchi Stefano, Cantori Isabella, Dragani Alfredo, Belvini Donata, Salviato Roberta, Margaglione Maurizio

机构信息

Department of Clinical and Experimental Medicine, University of Foggia, Italy.

Department of Clinical and Experimental Medicine, University of Foggia, Italy.

出版信息

Thromb Res. 2015 May;135(5):1031-4. doi: 10.1016/j.thromres.2015.01.019. Epub 2015 Jan 17.

DOI:10.1016/j.thromres.2015.01.019
PMID:25628142
Abstract
摘要

相似文献

1
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.
Thromb Res. 2015 May;135(5):1031-4. doi: 10.1016/j.thromres.2015.01.019. Epub 2015 Jan 17.
2
Mutation profiling in haemophilia A.甲型血友病的突变分析
Thromb Haemost. 2001 Apr;85(4):577-9.
3
Factor VIII inhibitors in patients with congenital severe haemophilia A and its relation to genotype.
Haemophilia. 2012 Nov;18(6):e411-4. doi: 10.1111/j.1365-2516.2012.02923.x. Epub 2012 Aug 14.
4
Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations.通过简单的DNA测序程序进行血友病A的快速分子诊断：鉴定14个新突变
Thromb Haemost. 2001 Apr;85(4):580-3.
5
Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.阿尔巴尼亚甲型血友病患者的突变谱：凝血因子VIII基因中十个新突变的鉴定
Haemophilia. 2007 May;13(3):311-6. doi: 10.1111/j.1365-2516.2007.01459.x.
6
Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.意大利某地区血友病 A 患者 F8 基因突变谱：23 种新突变的鉴定。
Haemophilia. 2010 Sep 1;16(5):791-800. doi: 10.1111/j.1365-2516.2010.02228.x. Epub 2010 Mar 19.
7
Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.101例甲型血友病患者中凝血因子VIII基因突变的鉴定：通过倒位筛查、多重PCR和CSGE进行突变分析以及10种新错义替代的分子建模
Haemophilia. 2005 Sep;11(5):481-91. doi: 10.1111/j.1365-2516.2005.01121.x.
8
The identification and classification of 41 novel mutations in the factor VIII gene (F8C).因子VIII基因（F8C）中41种新突变的鉴定与分类。
Hum Mutat. 2002 Mar;19(3):274-8. doi: 10.1002/humu.10056.
9
Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A.印度甲型血友病患者中因子VIII基因32个新突变的鉴定。
Haematologica. 2005 Feb;90(2):283-4.
10
Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.51例甲型血友病患者的突变分析：10种新突变报告及基因型与临床表型的相关性
Haemophilia. 2005 Mar;11(2):133-41. doi: 10.1111/j.1365-2516.2005.01069.x.

引用本文的文献

1
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.用于临床诊断中罕见BRCA1/2错义变异分类的计算机预测工具的性能
BMC Med Genomics. 2018 Mar 27;11(1):35. doi: 10.1186/s12920-018-0353-y.