IDENTIFICATION OF A HETEROZYGOUS COMPOUND INDIVIDUAL WITH AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA HARBOURING IN THE LDL-R GENE AND IN THE PCSK9 GENE

2005

A metallothionein family member interacts with the intracellular domain of the low density lipoprotein (LDL) receptor

2007

NOVEL NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS

2005

ASSOCIATION OF PARAOXONASE-1 Q192R PLYMORPHISM WITH CORONARY ARTERY DISEASE IN AMI PATIENTS, NON AMI CAD PATIENTS AND HEALTHY CONTROLS

2005

Liver steatosis and metabolic syndrome: prevalence and correlation with metabolic parameters and ultrasonography evaluation of abdominal fat

2006

Genetic heterogeneity of familial hypercholesterolemia in Sicily

2006

Le ipocolesterolemie primitive

2007

Hypobetalipoproteinemia (HBL) is characterized by cholesterol levels below the 5th percentile of the population distribution. Familial HBL (FHBL) is characterized by an inherited HBL trait within a family. In the last years gene defects underlying some cases of FHBL, but not all, have been identified. The molecular basis of some gene defect and the clinical onset of FHBL are presented in this paper.