Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain
Author:
Publisher
Wiley
Subject
Genetics(clinical),Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2516.2006.01315.x/fullpdf
Reference19 articles.
1. Factor X deficiency
2. Rare Coagulation Disorders
3. The investigation and management of neonatal haemostasis and thrombosis*
4. Replacement therapy for congenital Factor x deficiency
5. Molecular analysis of the genotype-phenotype relationship in factor X deficiency
Cited by 12 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. Postmortem diagnosis of severe factor X deficiency in a fetus with intracranial hemorrhage resulting in intrauterine death;Journal of Thrombosis and Haemostasis;2023-12
2. Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders;European Journal of Haematology;2023-02-20
3. Occurrence and management of severe bleeding episodes in patients with hereditary factor X deficiency;Haemophilia;2021-05-22
4. Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition;Haemophilia;2019-04-17
5. Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20-Month-Old Male: Case Report and Review of the Literature;Pediatric Blood & Cancer;2016-04-21
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