Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population.
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DOI: 10.1016/j.jacl.2021.01.002
Abstract: BACKGROUND Familial hypercholesterolemia (FH) is an inherited disorder mainly caused by mutations in the LDL receptor (LDL-R) and characterized by elevation of low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease. OBJECTIVE In this study,… read more here.
Keywords: familial hypercholesterolemia; asp47asn ldl; ldl receptor; ldl ... See more keywords