title: Characterization of the first PCSK9 gain of function homozygote.
authors.forename: Ana Catarina
authors.initials: AC
authors.lastname: Alves
authors.forename: Aitor
authors.initials: A
authors.lastname: Etxebarria
authors.forename: Ana Margarida
authors.initials: AM
authors.lastname: Medeiros
authors.forename: Asier
authors.initials: A
authors.lastname: Benito-Vicente
authors.forename: Aurélie
authors.initials: A
authors.lastname: Thedrez
authors.forename: Maxime
authors.initials: M
authors.lastname: Passard
authors.forename: Mikaël
authors.initials: M
authors.lastname: Croyal
authors.forename: Cesar
authors.initials: C
authors.lastname: Martin
authors.forename: Gilles
authors.initials: G
authors.lastname: Lambert
authors.forename: Mafalda
authors.initials: M
authors.lastname: Bourbon
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases / Q000235:genetics* / Q000378:metabolism; D012697:Serine Endopeptidases / Q000235:genetics* / Q000378:metabolism
chemical_list: D004247:DNA; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases