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
Romagnuolo, Rocco R, Scipione, Corey A CA, Marcovina, Santica M SM, Gemin, Matthew M, Seidah, Nabil G NG, Boffa, Michael B MB, Koschinsky, Marlys L ML
2017

1 variant was identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524180-CT-TA PCSK9 c.1363_1364delCTinsTA p.L455* Nonsense 9/12 -