Can We Clarify the Causative Gene/Variants Underlying Familial Hypercholesterolemia and Improve Genetic Diagnosis Rate?
Author:
Affiliation:
1. Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University
Publisher
Japan Atherosclerosis Society
Subject
Biochemistry, medical,Cardiology and Cardiovascular Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/jat/advpub/0/advpub_ED184/_pdf
Reference11 articles.
1. 1) Benn M, Watts GF, Tybjærg-Hansen A and Nordestgaard BG: Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Euro Heart J, 2016; 37: 1384-1394
2. 2) Huang CC, Niu DM and Charng MJ: Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia. J Atheroscler Thromb, 2021;
3. 3) Chiou K-R and Charng M-J: Genetic diagnosis of familial hypercholesterolemia in Han Chinese. J Clin Lipidol, 2016; 10: 490-496
4. 4) Hori M, Ohta N, Takahashi A, Masuda H, Isoda R, Yamamoto S, Son C, Ogura M, Hosoda K, Miyamoto Y and Harada-Shiba M: Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Atherosclerosis, 2019; 289: 101-108
5. 5) Han SM, Hwang B, Park TG, Kim DI, Rhee MY, Lee BK, Ahn YK, Cho BR, Woo J, Hur SH, Jeong JO, Park S, Jang Y, Lee MG, Bang D, Lee JH and Lee SH: Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing. PLoS One, 2015; 10: e0126706
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