Loss-of-function mutations in APOC3, triglycerides, and coronary disease

TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, Sekar Kathiresan (Lead / Corresponding author)

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    844 Citations (Scopus)


    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
    Original languageEnglish
    Pages (from-to)22-31
    Number of pages10
    JournalNew England Journal of Medicine
    Issue number1
    Publication statusPublished - 3 Jul 2014


    • African Continental Ancestry Group
    • Apolipoprotein C-III
    • Coronary Disease
    • European Continental Ancestry Group
    • Exome
    • Genotype
    • Heterozygote
    • Humans
    • Liver
    • Mutation
    • Risk Factors
    • Sequence Analysis, DNA
    • Triglycerides


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