Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference46 articles.
1. The receptor-binding sequence of urokinase. A biological function for the growth-factor module of proteases.
2. Identification oferythro-β-hydroxyasparagine in the EGF-like domain of human C1r
3. International nosology of heritable disorders of connective tissue, Berlin, 1986
4. The solution structure of human epidermal growth factor
5. Inhibition of protein Ca cofactor function of human and bovine protein S by C4b-binding protein.
Cited by 123 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. Aortic aneurysms: current pathogenesis and therapeutic targets;Experimental & Molecular Medicine;2023-12-01
2. Extracellular Matrix Remodeling in Vascular Disease: Defining Its Regulators and Pathological Influence;Arteriosclerosis, Thrombosis, and Vascular Biology;2023-09
3. Molecular and genetic basis of variability in clinical manifestations of Marfan syndrome;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2023-04-27
4. Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity;The American Journal of Human Genetics;2022-03
5. Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility;American Journal of Medical Genetics Part A;2022-01-29
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