Using a minigene approach to characterize a novel splice site mutation in humanF7gene causing inherited factor VII deficiency in a Chinese pedigree
Author:
Publisher
Wiley
Subject
Genetics(clinical),Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2516.2009.02064.x/fullpdf
Reference21 articles.
1. Characterization of a cDNA coding for human factor VII;Hagen;Proc Natl Acad Sci,1986
2. Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13;Fukushima;Jpn J Hum Genet,1987
3. Congenital SPCA deficiency: a hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions;Alexander;J Clin Invest,1951
4. Factor VII deficiency and the FVII mutation database;MacVey;Hum Mutat,2001
5. Novel aberrant splicings caused by a splice site mutation (IVS1a+5g>a) in F7 gene;Ding;Thromb Haemost,2005
Cited by 10 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. Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations c.572-1G>A and c.1037A>C in a Chinese pedigree;Gene;2024-11
2. Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency;Journal of Clinical Laboratory Analysis;2021-08-02
3. Identification of two novel mutations in three children with congenital factor VII deficiency;Blood Coagulation & Fibrinolysis;2021-03-01
4. Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19;Pediatric Hematology and Oncology;2021-02-24
5. The adverse events of haematopoietic stem cell transplantation are associated with gene polymorphism within human leukocyte antigen region;Scientific Reports;2021-01-14
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