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- W1974130921 endingPage "1922" @default.
- W1974130921 startingPage "1915" @default.
- W1974130921 abstract "Conflicting data from epidemiological trials, genetic family studies, transgenic animal models, and in vitro experiments have created controversy regarding the importance of HDL and apolipoprotein (apo) A-I for reverse cholesterol transport and protection from atherosclerosis. In this study we identified a homozygous nonsense mutation in codon 32 (Q32X) of the apoA-I gene as the molecular basis of apoA-I deficiency in a 31-year-old woman who did not present with clinical signs of atherosclerosis. Despite half-normal plasma concentrations of HDL cholesterol and apoA-I in subjects heterozygous for this mutation, the history of the patient's large family did not indicate any increased prevalence of myocardial infarction." @default.
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- W1974130921 date "1994-12-01" @default.
- W1974130921 modified "2023-10-14" @default.
- W1974130921 title "A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas." @default.
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- W1974130921 doi "https://doi.org/10.1161/01.atv.14.12.1915" @default.
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- W1974130921 hasPublicationYear "1994" @default.
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