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Genetic Causes of Familial Hypercholesterolemia Phenotypes
• Deletion, missense, nonsense, and insertion mutations in low-density lipoprotein receptor (LDLR) affecting receptor function (>1,600 mutations reported to date);
• Mutations in apolipoprotein B (APOB) that affect the ability of the ligand to recognize LDLR (most commonly a single base change at position 3,500);
• Gain-of-function mutations in PCSK9 causing a reduction in LDLR on the cell surface;
• Mutations in LDLR accessory protein 1 (LDLRAP1) causing improper placement of LDLR on the hepatocyte membrane (a rare and recessively inherited form).