Browsing Artículos by Author "Di Taranto, Maria Donata"
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Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia
Di Taranto, Maria Donata; Benito Vicente, Asier; Giacobbe, Carola; Belloso Uribe, Kepa; Rubba, Paolo; Etxebarria Gallego, Aitor; Guardamagna, Ornella; Gentile, Marco; Martín Plágaro, César Augusto; Fortunato, Giuliana (Nature, 2017-11)Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among ...