Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Endocrinology,Biochemistry
Reference16 articles.
1. Familial hypercholesterolemia;Goldstein,2001
2. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management;Atherosclerosis.,1999
3. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent;Wang;Hum. Mutat.,2001
4. A review on the diagnosis, natural history, and treatment of familial hypercholesterolemia;Marks;Atherosclerosis.,2003
5. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment;Rader;J. Clin. Invest.,2003
Cited by 72 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. Rapid DNA Diagnosis of Familial Hypercholesterolemia Due to the LDLR 15.8-Kilobase Deletion;CJC Open;2024-09
2. Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors;Clinical Case Reports;2024-02
3. Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong;Genes;2023-11-13
4. Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study;CMAJ Open;2023-07
5. Multiple Ligation-dependent Probe Amplification Along with Whole Exome Sequencing Should be Required for the Diagnosis of Structural Heterozygous Familial Hypercholesteremia;Internal Medicine;2022-10-01
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