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Familial hypercholesterolaemia

This PrimeViews focuses on the metabolism of low-density lipoprotein (LDL) cholesterol and illustrates how, in familial hypercholesterolaemia, genetic mutations result in the insufficient removal of LDL cholesterol from the circulation.

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Familial hypercholesterolaemia. Nat Rev Dis Primers 3, 17094 (2017).

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