Developing a new generation of tests for genotyping hemophilia-causative rearrangements involvingint22handint1hhotspots in the factor VIII gene
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1538-7836.2008.02926.x/fullpdf
Reference17 articles.
1. Inversions disrupting the factor VIII gene are common cause of severe Haemophilia A;Lakich;Nat Genet,1993
2. Characteristic mRNA abnormality found in half the patients with severe Haemophilia A is due to large inversions;Naylor;Hum Mol Genet,1993
3. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe Hemophilia A;Bagnall;Blood,2002
4. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells;Rossiter;Hum Mol Genet,1994
5. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversions junctions;Naylor;Hum Mol Genet,1995
Cited by 102 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. Relationship between mutations in severe hemophilia A and risk of inhibitor development: A large single-center study;Transfusion and Apheresis Science;2024-12
2. Large deletions and small insertions and deletions in the factor VIII gene predict unfavorable immune tolerance induction outcome in people with severe hemophilia A and high-responding inhibitors;Thrombosis Research;2024-10
3. Prediction of inhibitor development in previously untreated and minimally treated children with severe and moderately severe hemophilia A using a machine-learning network;Journal of Thrombosis and Haemostasis;2024-09
4. Detection of hemophilia A genetic variants using third-generation long-read sequencing;Clinica Chimica Acta;2024-08
5. Report on the diagnosis and treatment of hemophilia in China (Version 2024);LabMed Discovery;2024-07
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