Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

Anne Tybjaerg-Hansen, Henrik Kjaerulf Jensen, Marianne Benn, Rolf Steffensen, Gorm Jensen, Børge G Nordestgaard

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    31 Citationer (Scopus)

    Abstract

    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.
    OriginalsprogEngelsk
    TidsskriftArteriosclerosis, Thrombosis, and Vascular Biology
    Vol/bind25
    Udgave nummer1
    Sider (fra-til)211-5
    Antal sider5
    ISSN1079-5642
    DOI
    StatusUdgivet - 2005

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