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	-