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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Bibliographische Detailangaben
Veröffentlicht in:Anatol J Cardiol
Hauptverfasser: Kaya, Esra, Kayıkçıoğlu, Meral, Vardarlı, Aslı Tetik, Eroğlu, Zuhal, Payzın, Serdar, Can, Levent
Format: Artigo
Sprache:Inglês
Veröffentlicht: Kare Publishing 2017
Schlagworte:
Original Investigation
Online Zugang: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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