CONSERVATIVE AND SURGICAL TREATMENT OF AN RADICULAR CYST. CASE REPORT



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 encoding the low-density lipoprotein receptor (LDLR).LDLR is synthesized in the endoplasmic reticulum (ER) where it undergoes post-translational modifications and then tr

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