An Iranian-Armenian LDLR frameshift mutation causing familial hypercholesterolemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb04334.x/fullpdf
Reference8 articles.
1. Deletion and insertion mutations in short tandem repeats in the coding regions of human genes;Darvasi;Eur J Hum Genet,1995
2. Estimation of the concentration of the low density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge;Friedewald;Clin Chem,1972
3. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia;Hobbs;Hum Mutat,1992
4. Characterization of a disease-causing Glu119-Lys mutation in the low density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia;Jensen;Hum Mutat,1994
Cited by 6 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. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank;Nature Genetics;2022-02-17
2. Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia;Frontiers in Genetics;2021-02-11
3. Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank;2020-11-29
4. Familial hypercholesterolemia mutations in the Middle Eastern and North African region: A need for a national registry;Journal of Clinical Lipidology;2015-03
5. Low-Density Lipoprotein Receptor Gene Mutation Analysis and Structure–Function Correlation in an Omani Arab Family With Familial Hypercholesterolemia;Angiology;2013-11-17
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