Vincenza Valenti

A Novel Loss of Function Mutation of <i>PCSK9</i> Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

Tommaso Fasano, Angelo B. Cefalù, Enza Di Leo et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2006 · 125 citations · Full text

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

Davide Noto, Angelo B. Cefalù, Vincenza Valenti et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2012 · 82 citations · Full text

A Novel <i>APOB</i> Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia

Angelo B. Cefalù, James P. Pirruccello, Davide Noto et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2013 · 78 citations · Full text

Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia

Angelo B. Cefalù, Rossella Spina, Davide Noto et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2015 · 25 citations · Full text

Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene

Angelo B. Cefalù, Pier Luigi Calvo, Davide Noto et al. · Metabolism · 2009 · 23 citations

Mendelian Disorder, Disease Mechanism, Genetic Disorder +11