title: The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family.
authors.forename: Anna
authors.initials: A
authors.lastname: Ruotolo
authors.forename: Maria Donata
authors.initials: MD
authors.lastname: Di Taranto
authors.forename: Maria Nicoletta
authors.initials: MN
authors.lastname: D'Agostino
authors.forename: Gennaro
authors.initials: G
authors.lastname: Marotta
authors.forename: Marco
authors.initials: M
authors.lastname: Gentile
authors.forename: Maria
authors.initials: M
authors.lastname: Nunziata
authors.forename: Marta
authors.initials: M
authors.lastname: Sodano
authors.forename: Rosa
authors.initials: R
authors.lastname: Di Noto
authors.forename: Luigi
authors.initials: L
authors.lastname: Del Vecchio
authors.forename: Paolo
authors.initials: P
authors.lastname: Rubba
authors.forename: Giuliana
authors.initials: G
authors.lastname: Fortunato
mesh_terms: D000368:Aged; D005260:Female; D006801:Humans; D050356:Lipid Metabolism; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases / Q000235:genetics / Q000378:metabolism*; D011973:Receptors, LDL / Q000378:metabolism*; D012697:Serine Endopeptidases / Q000235:genetics / Q000378:metabolism*
chemical_list: D011973:Receptors, LDL; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases