The low density lipoprotein (LDL) receptor is a cell surface transmembrane protein that
mediates the uptake and lysosomal degradation of plasma LDL, thereby providing …

Familial hypercholesterolaemia (FH), defined as the heritable occurrence of severe
hypercholesterolaemia with cholesterol deposits in tendons and premature heart disease, is …

Lipoprotein (a)[Lp (a)] is a quantitative genetic trait that in the general population is largely
controlled by 1 major locus—the locus for the apolipoprotein (a)[apo (a)] gene. Sibpair …

Fanconi anemia (FA) is a rare, genetically heterogeneous autosomal recessive disorder
associated with progressive aplastic anemia, congenital abnormalities, and cancer. FA has …

Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism
characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc) …

Hypertrophic cardiomyopathy (HCM) is an autosomal dominantly inherited disease of the
cardiac sarcomere, caused by numerous mutations in genes encoding protein components …

The elucidation of the molecular basis of familial hypercholesterolemia (FH) by Brown and
Goldstein about three decades ago provided the most convincing evidence for a causative …

Two common founder-related gene mutations that affect the low-density lipoprotein receptor
(LDLR) are responsible for approximately 80% of familial hypercholesterolemia (FH) in …

Patients with homozygous familial hypercholesterolaemia (HoFH) have markedly elevated
low density lipoprotein (LDL) cholesterol levels that are refractory to standard doses of lipid …

Mutations in the low‐density lipoprotein receptor (LDLR) gene cause familial
hypercholesterolemia (FH), an autosomal dominant inherited disorder associated with an …