Article
Single Nucleotide Variants Associated With Polygenic Hypercholesterolemia in Families Diagnosed Clinically With Familial Hypercholesterolemia.
Revista espanola de cardiologia (English ed.) - 1 May 2018
Lamiquiz-Moneo Itziar, Pérez-Ruiz María Rosario, Jarauta Estíbaliz, Tejedor María Teresa, Bea Ana M, Mateo-Gallego Rocío, Pérez-Calahorra Sofía, Baila-Rueda Lucía, Marco-Benedí Victoria, de Castro-Orós Isabel, Cenarro Ana, Civeira Fernando
Abstract excerpt
INTRODUCTION AND OBJECTIVES: Approximately 20% to 40% of clinically defined familial hypercholesterolemia cases do not show a causative mutation in candidate genes, and some of them may have a polygenic origin. A cholesterol gene risk score for the diagnosis of polygenic hypercholesterolemia has been demonstrated to be valuable to differentiate polygenic and monogenic hypercholesterolemia. The aim of this study...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.