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 -