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

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 g...

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Detaylı Bibliyografya
Yayımlandı:Anatol J Cardiol
Asıl Yazarlar: Kaya, Esra, Kayıkçıoğlu, Meral, Vardarlı, Aslı Tetik, Eroğlu, Zuhal, Payzın, Serdar, Can, Levent
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Kare Publishing 2017
Konular:
Original Investigation
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5731522/
https://ncbi.nlm.nih.gov/pubmed/28777095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14744/AnatolJCardiol.2017.7654
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