Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia

Abstract excerpt

RATIONALE: Proprotein convertase subtilisin/kexin 9 or PCSK9 is a protein whose main function is to regulate the number of low-density lipoprotein receptors (LDLR) present on the cell surface. Loss-of-function mutations in PCSK9 have been related to low LDL-cholesterol levels and a decrease in the risk of cardiovascular events. PATIENT CONCERNS: We present the case of a 27-year-old woman, offspring of a patient...

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