Analysis of LDLR mutations in familial hypercholesterolemia patients in Greece by use of the NanoChip® Microelectronic Array Technology
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference45 articles.
1. Familial hypercholesterolemia;Goldstein,1995
2. The UMD-LDLR database: additions to the software and 490 new entries to the database;Villeger;Hum Mutat,2002
3. A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation;Mavroidis;Hum Mutat,1997
4. Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands;Traeger-Synodinos;Hum Genet,1998
5. Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree;Miltiadous;Hum Mutat,2000
Cited by 12 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. Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward;Journal of Clinical Lipidology;2016-07
2. Evaluation of SNPs in the Mitochondrial DNA Using NanoChip Microarrays in the Turkish Population;International Journal of Human Genetics;2015-09
3. Two-dye based arrayed primer extension for simultaneous multigene detection in lipid metabolism;Clinica Chimica Acta;2015-03
4. Familial Hypercholesterolemia in Greek children and their families: Genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum;Atherosclerosis;2014-12
5. NovelLDLRVariants in Patients with Familial Hypercholesterolemia:In SilicoAnalysis as a Tool to Predict Pathogenic Variants in Children and Their Families;Annals of Human Genetics;2013-07-02
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