Accurate, simple, and inexpensive assays to diagnose F8 gene inversion mutations in hemophilia A patients and carriers
Author:
Affiliation:
1. Department of Medicine, Uniformed Services University of the Health Sciences, Bethesda, MD;
2. Division Hematology/Oncology, University of Pittsburgh Medical Center, Pittsburgh, PA; and
3. Hemophilia Center of Western Pennsylvania, Pittsburgh, PA
Abstract
Publisher
American Society of Hematology
Subject
Hematology
Link
http://ashpublications.org/bloodadvances/article-pdf/1/3/231/877838/advances001651.pdf
Reference26 articles.
1. Structure of human factor VIII;Vehar;Nature,1984
2. Characterization of the human factor VIII gene;Gitschier;Nature,1984
3. Molecular cloning of a cDNA encoding human antihaemophilic factor;Toole;Nature,1984
4. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat Genet,1993
5. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions;Naylor;Hum Mol Genet,1995
Cited by 9 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 Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China;Global Medical Genetics;2023-09
2. Hemophilia A (Factor VIII Deficiency);Hematology/Oncology Clinics of North America;2021-12
3. Identification of F8 rearrangements in carrier and non‐carrier mothers of haemophilia A patients;Haemophilia;2021-08-11
4. Droplet digital PCR and mile‐post analysis for the detection of F8 int1h inversions;Journal of Thrombosis and Haemostasis;2021-01-17
5. Detection of F8 int22h inversions using digital droplet PCR and mile‐post assays;Journal of Thrombosis and Haemostasis;2020-04-09
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