Hypercholesterolemia is a strong determinant of mortality and morbidity associated with
cardiovascular diseases and a major contributor to the global disease burden. Mutations in …

Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in
genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR) …

Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to
elevated blood cholesterol and a dramatically increased risk of atherosclerosis. It is …

Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its
important risk of premature atherosclerosis and cardiovascular disease, familial …

Familial hypercholesterolaemia is the most commonly encountered genetic condition that
predisposes individuals to premature cardiovascular disease. Nevertheless, most patients …

Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated elevation of
plasmatic low‐density lipoprotein cholesterol associated with high risk of premature …

Abstract Purpose of Review Familial hypercholesterolaemia (FH) is an inherited disorder of
low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol …

Aims: To determine the relative frequency of mutations in three different genes (low-density
lipoprotein receptor (LDLR), APOB, PCSK9), and to examine their effect in development of …

Background Familial hypercholesterolemia (FH) is an autosomal dominant disease
characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of …

Background and aims Marked hypercholesterolemia, defined as low density lipoprotein
cholesterol (LDL-C) levels≥ 190 mg/dL, may be due to LDLR, APOB, and PCSK9 variants …