Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.

No abstract is available for this paper.

• Publication year

  1993

• Venue

  Arteriosclerosis and Thrombosis A Journal of Vascular Biology

• Publication date

  1993-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1161/01.ATV.13.7.1076PMID 8318509
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.

  1992influential reference
• Low-density lipoprotein receptor point mutation results in expression of both active and inactive surface forms of the same mutant receptor.

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  1992cited by this paper
• Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas

  1991cited by this paper
• Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100

  1991cited by this paper
• Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI.

  1991cited by this paper
• Response to cholesterol-lowering drugs in familial defective apolipoprotein B-100.

  1991cited by this paper
• Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia.

  1991cited by this paper
• Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.

  1990influential reference
• Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases.

  1990cited by this paper
• Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.

  1990cited by this paper
• Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.

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• Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

  1989cited by this paper
• Apolipoprotein B metabolism in homozygous familial hypercholesterolemia.

  1989cited by this paper
• The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.

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• Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity.

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• Gene Mutation in Patients with Familial Hypercholesterolemia and Response to Alirocumab Treatment—A Single-Centre Analysis

  2024influential citation
• Familial hypercholesterolaemia.

  2024cites this paper
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  2023cites this paper
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  2021influential citation
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  2018cites this paper
• Familial defective apolipoprotein B-100: A review.

  2016cites this paper
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  2016cites this paper
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  2016cites this paper
• Microsomal transfer protein (MTP) inhibition—a novel approach to the treatment of homozygous hypercholesterolemia

  2014cites this paper
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  2013cites this paper
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  2012cites this paper
• Simultaneous Detection of Multiple Familial Hypercholesterolemia Mutations Facilitates an Improved Diagnostic Service in South African Patients at High Risk of Cardiovascular Disease

  2012cites this paper
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  2011cites this paper
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  2011cites this paper
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  2010cites this paper
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  2006cites this paper
• DEVELOPMENT AND APPLICATION OF AN INDIVIDUALISED GENETIC APPROACH FOR CARDIOVASCULAR DISEASE RISK REDUCTION

  2005cites this paper
• The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

  2005cites this paper
• Familial Hypercholesterolemia in South Africa

  2004cites this paper
• Thrombosis in Pediatric Cardiac Patients

  2003cites this paper
• Statins in homozygous familial hypercholesterolemia

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• The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

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• Statin therapy in a kindred with both apolipoprotein B and low density lipoprotein receptor gene defects.

  1997cites this paper
• Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100.

  1997cites this paper
• Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

  1997cites this paper
• The Use of Stable Isotopes to Study ApoB Metabolism in Dyslipidaemia

  1997cites this paper
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  1996cites this paper
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  1995cites this paper
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  1995cites this paper
• Familial defective apolipoprotein-B is rare in hypercholesterolaemic South African Afrikaners, coloureds and Indians.

  1995cites this paper
• Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.

  1994cites this paper