View source for JASReference:Noguchi T:Katsuda S:Kawashiri MA:Tada H:Nohara A:Inazu A:Yamagishi M:Kobayashi J:Mabuchi H:,Atherosclerosis,2010,210,166

{{JASReference
|mutation=
&&PCSK9/Dup/61-63/CTG&&L21dup&&exon1
&&PCSK9/Mut94/G-A&&E32K&&exon1
&&PCSK9/Mut/158/C-T&&A53V&&exon1
&&PCSK9/Mut/787/G-A&&G263S&&exon5
&&PCSK9/Mut/1420/A-G&&I474V&&exon9
&&PCSK9/Mut2004/C-A&&S668R&&exon12
&&PCSK9/Mut/2009/A-G&&E670G&&exon12
|title=The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation
|doi=10.1016/j.atherosclerosis.2009.11.018
|pmid=20006333
}}