Molecular diagnosis of Familial Hypercholesterolemia and functional studies of missense variants in the LDLR gene

Valentim de Azevedo, Sílvia2016-02-172016-02-172015-10-16http://hdl.handle.net/10400.18/3358engDoenças Cardio e Cérebro-vascularesFamilial HypercholesterolemiaMolecular DiagnosisLDLR geneMolecular diagnosis of Familial Hypercholesterolemia and functional studies of missense variants in the LDLR genelecture