Azevedo, S.Chora, J.RAlves, A.CMedeiros, A.M.Bourbon, Mafalda2016-06-212018-01-012016-05http://hdl.handle.net/10400.18/3847Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disorder with increased cardiovascular risk, caused by mutations in LDLR, APOB and PCSK 9 genes. Although it is described that over 1700 variants have been found, none of the existing databases are completely updated. The aim of this work is to construct a FH database in order to provide a unique source of verified information about variants associated with FH for a more accurate genetic diagnosis.engDoenças Cardio e Cérebro-vascularesFamilial Hypercholesterolemiaconference object