BERTOLINI S.

The molecular bases of hypoalphalipoproteinemia (HA), which is associated with premature coronary heart disease (pCAD) in most cases, were investigated in 80 Italian probands. ABCA1, Apo AI, LCAT, LPL and GBA were the candidate genes. The molecular defect was found in 64% of probands (4% ABCA1, 4% Apo AI, 11% LCAT, 44% LPL and 1% GBA...

Background: Familial hypobetalipoproteinemia type 1 (FHBL-1) is a codominant disorder characterized by greatly reduced plasma levels of total cholesterol, low-density lipoprotein cholesterol, and apolipoprotein B. Rare exonic pathogenic variants of APOB gene (nonsense variants, minute deletions/insertions and nonsynonymous variants) have been...