Why does the mutationG17736AVal107Val (silent) in theF9gene cause mild haemophilia B in five Swedish families?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2516.2008.01753.x/fullpdf
Reference27 articles.
1. Haemophilia B: database of point mutations and short additions and deletions eighth edition;Giannelli;Nucleic Acids Res,1998
2. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B);Yoshitake;Biochemistry,1985
3. Dual-specificity splice sites function alternatively as 5 and 3 splice sites;Zhang;Proc Natl Acad Sci U S A,2007
4. Mutations associated with variant phenotypes in ataxia-telangiectasia;McConville;Am J Hum Genet,1996
5. Deep intronic mutations are rarely a cause of hemophilia B;Feng;Hum Mutat,1999
Cited by 27 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Molecular genetics of coagulation disorders and hemophilia;Japanese Journal of Thrombosis and Hemostasis;2024
2. Translation Rates and Protein Folding;Journal of Molecular Biology;2023-12
3. Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases;Journal of Biological Chemistry;2023-09
4. Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression;Human Mutation;2022-04-19
5. The Molecular Basis of FIX Deficiency in Hemophilia B;International Journal of Molecular Sciences;2022-03-02
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3