Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization

BackgroundFamilial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by increased LDL-cholesterol levels.About 85% of FH cases are caused by LDLR mutations waist deep dvd encoding the low-density lipoprotein receptor (LDLR).LDLR is synthesized in the endoplasmic reticulum (ER) where it undergoes post-translational modificati

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