Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy - Bertolini, Stefano; Pisciotta, Livia; Rabacchi, Claudio; Cefalù, Angelo B.; Noto, Davide; Fasano, Tommaso; Signori, Alessio; Fresa, Raffaele; Averna, Maurizio; Calandra, Sebastiano (Atherosclerosis, 2013)
Keywords: Adult; Aged; Alcohol Dehydrogenase; Alcohol Dehydrogenase - genetics; Alleles; Apolipoprotein B; atherosclerosis; Autosomal dominant hypercholesterolemia; blood; Cardiovascular; Cholesterol, HDL; Cholesterol, HDL - blood; Cholesterol, LDL; Cholesterol, LDL - blood; coronary disease; Coronary Disease - genetics; Female; gender; genes; Genetic Association Studies; genetics; heterozygosity; Heterozygote; high density lipoprotein cholesterol; homozygosity; Humans; hypercholesterolemia; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type II - genetics; hypertension; Italy; LDL receptor; low density lipoprotein cholesterol; Middle Aged; Mutation; Mutations; pathology; patients; PCSK9; Phenotype; phenotypic variation; Proprotein Convertase 9; Proprotein Convertases; Proprotein Convertases - genetics; Reference Values; Serine Endopeptidases; Serine Endopeptidases - genetics; Smoking; Tendons; Tendons - pathology; Xanthomatosis; Xanthomatosis - pathology; Italy; Apolipoprotein B; Mutations; PCSK9; Autosomal dominant hypercholesterolemia; LDL receptor