Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1186/s12881-014-0099-0/fulltext.html
Reference34 articles.
1. Wilde AA, Behr ER: Genetic testing for inherited cardiac disease. Nat Rev Cardiol. 2013, 10 (10): 571-583. 10.1038/nrcardio.2013.108.
2. Maron BJ, Maron MS, Semsarian C: Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol. 2012, 60 (8): 705-715. 10.1016/j.jacc.2012.02.068.
3. Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG: A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990, 62 (5): 999-1006. 10.1016/0092-8674(90)90274-I.
4. Karam S, Raboisson MJ, Ducreux C, Chalabreysse L, Millat G, Bozio A, Bouvagnet P: A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. Congenit Heart Dis. 2008, 3 (2): 138-143. 10.1111/j.1747-0803.2008.00165.x.
5. Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M: Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005, 26 (8): 794-803. 10.1093/eurheartj/ehi193.
Cited by 84 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. RareACTN2Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation;2024-01-17
2. Emerging Themes in Genetics of Hypertrophic Cardiomyopathy. Current status and clinical application.;Canadian Journal of Cardiology;2024-01
3. Egg White and Yolk Protein Atlas: New Protein Insights of a Global Landmark Food;Foods;2023-09-18
4. A knowledge graph approach to predict and interpret disease-causing gene interactions;BMC Bioinformatics;2023-08-29
5. Structural and signaling proteins in the Z-disk and their role in cardiomyopathies;Frontiers in Physiology;2023-03-02
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