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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

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  1. Apolipoprotein M and Sphingosine-1-Phosphate Receptor 1 promote the transendothelial transport of High-Density Lipoprotein

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  2. Low High-Density Lipoprotein Cholesterol and High White Blood Cell Counts: A Mendelian Randomization Study

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  3. Novel Insights From Human Studies on the Role of High-Density Lipoprotein in Mortality and Noncardiovascular Disease

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  4. Plasma Albumin and Incident Cardiovascular Disease: Results From the CGPS and an Updated Meta-Analysis

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  1. HIV infection is associated with type 2 diabetes mellitus

    Research output: Contribution to journalLetterResearchpeer-review

  2. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

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The effect of mutations on phenotype is often overestimated because of ascertainment bias. We determined the effect of background population on cholesterol phenotype associated with specific mutations in the low-density lipoprotein (LDL) receptor and the relative importance of background population and type of mutation (LDL receptor [LDLR] or APOB R3500Q) for cholesterol phenotype.
Original languageEnglish
JournalArteriosclerosis, Thrombosis, and Vascular Biology
Volume25
Issue number1
Pages (from-to)211-5
Number of pages5
ISSN1079-5642
DOIs
Publication statusPublished - 2005

    Research areas

  • Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Substitution, Apolipoproteins B, Arginine, Bias (Epidemiology), Cholesterol, Female, Genetics, Population, Glutamine, Heterozygote Detection, Humans, Hyperlipoproteinemia Type II, Male, Middle Aged, Mutation, Myocardial Ischemia, Phenotype, Receptors, LDL

ID: 32554094