ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia.
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Endocrinology,Biochemistry
Reference38 articles.
1. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipo-proteins;Kane,1989
2. Human apolipoprotein B: structure of carboxyl-terminal domains, sites of gene expression and chromosomal localization;Knott;Science.,1985
3. Mapping of the human apoB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism;Huang;Proc. Natl. Acad. Sci. USA.,1986
4. Structure of the human apolipoprotein B gene;Blackhart;J. Biol. Chem.,1986
5. The complete cDNA and ami no acid sequence of human apolipoprotein B-100;Chen;J. Biol. Chem.,1986
Cited by 33 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. Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal;Frontiers in Genetics;2023-04-17
2. Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk;Journal of Lipid Research;2011-11
3. Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia;Clinica Chimica Acta;2009-03
4. Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia;Molecular Genetics and Metabolism;2009-02
5. Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia;Clinica Chimica Acta;2008-11
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