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
AF Hedayat, KH Park, TG Kwon, JR Woollard, K Jiang, DF Carlson, A Lerman, LO Lerman
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.Asp374Tyr Missense 7/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -