FH-Sydney 1 and 2: Two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference17 articles.
1. A Rapid Method for Diagnosis of the Lebanese Allele in the Low-Density Lipoprotein Receptor Gene
2. Simultaneous screening for β-thalassemia mutations by chemical cleavage of mismatch
3. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
4. (1989) Familial hypercholesterolemia. In (eds): The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, pp 1215-1250.
5. Use of the single-strand conformational polymorphism method to detect recurrent and novel mutations in the low-density lipoprotein repeptor gene in patients with familial hypercholesterolaemia: detection of a novel mutation Asp200 ? Gly
Cited by 8 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. Xanthome verschwinden, Atherosklerose bleibt;CardioVasc;2018-12
2. Case report—Rapid regression of xanthomas under lipoprotein apheresis in a boy with homozygous familial hypercholesterolemia;Journal of Clinical Lipidology;2018-07
3. An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations;Journal of Lipid Research;2011-11
4. Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy;Atherosclerosis;2010-06
5. Software and database for the analysis of mutations in the human LDL receptor gene;Nucleic Acids Research;1997-01-01
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