PMID: 28750079

Roles of the low density lipoprotein receptor and related receptors in inhibition of lipoprotein(a) internalization by proprotein convertase subtilisin/kexin type 9.

PloS one
R Romagnuolo, CA Scipione, SM Marcovina, M Gemin, NG Seidah, MB Boffa, ML Koschinsky
2017

2 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524180-CT-TA PCSK9 c.1363_1364delCTinsTA p.Leu455* Nonsense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -