PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia
Makaleler > Tam Makale · 2017
Yazarlar: Esra KAYA, Latife Meral KAYIKÇIOĞLU, Aslı TETİK VARDARLI, Fatma Zuhal EROĞLU, Serdar PAYZIN, Levent Hürkan CAN
ANATOLIAN JOURNAL OF CARDIOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2017, cilt 18, ss 266-272
DOI: 10.14744/anatoljcardiol.2017.7654
Özet
Objective: The molecular basis of the mutations in the PCSK9 gene that produces familial hypercholesterolemia (FH) in the Turkish population is unknown. This study was conducted to determine the presence of four different PCSK9 gain-of-function (GOF) mutations (F216L, R496W, S127R, and D374Y) in a group of patients with FH.