Article
LDLR variant classification for improved cardiovascular risk prediction in familial hypercholesterolemia.
Atherosclerosis - 1 Oct 2024
Ibrahim Shirin, Hartgers Merel L, Reeskamp Laurens F, Zuurbier Linda, Defesche Joep, Kastelein John J P, Stroes Erik S G, Hovingh G Kees, Huijgen Roeland
Abstract excerpt
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a genetic disorder marked by high LDL cholesterol and an increased premature coronary artery disease (CAD) risk. Current dichotomous classification of LDL receptor gene (LDLR) variants may inadequately capture patient variability in LDL cholesterol levels and CAD risk. This study assessed a novel approach for determining LDLR variant severity using...
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