Molecular analysis of APOB, SAR1B, ANGPTL3, AND MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients

Primary hypobetalipoproteinemia is generally considered a heterogenic group of monogenic, inherited lipoprotein disorders characterized by low concentrations of LDL cholesterol and apolipoprotein B in plasma. Lipoprotein disorders include abetalipoproteinemia, familial hypobetalipoproteinemia, chylomicron retention disease, and familial combined hypolipidemia. Our aim was to review and analyze the results of the molecular analysis of hypolipidemic patients studied in our laboratory over the last 15 years.

Source: Atherosclerosis - February 11, 2019 Category: Cardiology Authors: Francisco Blanco-Vaca, Jes ús M. Martin-Campos, Ángel Beteta-Vicente, Marina Canyelles, Susana Martínez, Rosa Roig, Núria Farré, Josep Julve, Mireia Tondo Source Type: research