Article
Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.
Clinical genetics - 1 Oct 2022
Heidemann Britt E, Koopal Charlotte, Baass Alexis, Defesche Joep C, Zuurbier Linda, Mulder Monique T, Roeters van Lennep Jeanine E, Riksen Niels P, Boot Christopher, Marais A David, Visseren Frank L J
Abstract excerpt
Familial Dysbetalipoproteinemia (FD) is the second most common monogenic dyslipidemia and is associated with a very high cardiovascular risk due to cholesterol-enriched remnant lipoproteins. FD is usually caused by a recessively inherited variant in the APOE gene (ε2ε2), but variants with dominant inheritance have also been described. The typical dysbetalipoproteinemia phenotype has a delayed onset and requires a...
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