Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in <i>LDLR</i>

Abstract

Del2.5 is the first reported gain-of-function mutation in <i>LDLR</i> causing a large reduction in LDL cholesterol. These data point to a role for alternative polyadenylation of <i>LDLR</i> mRNA as a potent regulator of LDL receptor expression in humans.