Rapid genotyping of F8 intron 22 inversion by nested PCR based on long-distance PCR
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine,Hematology
Link
http://link.springer.com/content/pdf/10.1007/s11239-020-02043-5.pdf
Reference17 articles.
1. Favier R, Lavergne JM, Costa JM, Caron C, Mazurier C, Viemont M, Delpech M, Valleix S (2000) Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood 96(13):4373–4375
2. Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R (2005) Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet 6(6):488–501. https://doi.org/10.1038/nrg1617
3. Antonarakis SE, Kazazian HH, Tuddenham EG (1995) Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat 5(1):1–22. https://doi.org/10.1002/humu.1380050102
4. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J (1993) Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 5(3):236–241. https://doi.org/10.1038/ng1193-236
5. Rossetti LC, Radic CP, Abelleyro MM, Larripa IB, De Brasi CD (2011) Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR. Int J Mol Sci 12(10):7271–7285. https://doi.org/10.3390/ijms12107271
Cited by 2 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. Large Intron Inversions in Romanian Patients with Hemophilia A—First Report;Medicina;2023-10-13
2. An amplification velocity-controlled PCR device for accurately detecting the initial content of target DNA templates;Chemical Engineering Journal;2023-01
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