PMID: 29175268

Peripheral vascular atherosclerosis in a novel PCSK9 gain-of-function mutant Ossabaw miniature pig model.

Translational research : the journal of laboratory and clinical medicine
Hedayat, Ahmad F AF, Park, Kyoung-Ha KH, Kwon, Taek-Geun TG, Woollard, John R JR, Jiang, Kai K, Carlson, Daniel F DF, Lerman, Amir A, Lerman, Lilach O LO
2018-02

2 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -