PMID: 28777095

PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian journal of cardiology

Kaya, Esra E, Kayıkçıoğlu, Meral M, Tetik Vardarlı, Aslı A, Eroğlu, Zuhal Z, Payzın, Serdar S, Can, Levent L

2017-10

4 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55524303-C-T	PCSK9	c.1486C>T	p.R496W	Missense	9/12	-
1-55505604-G-A	PCSK9	c.94G>A	p.E32K	Missense	1/12	-
1-55509689-T-A	PCSK9	c.381T>A	p.S127R	Missense	2/12	-
1-55518073-T-C	PCSK9	c.646T>C	p.F216L	Missense	4/12	-