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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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Detalles Bibliográficos
Autores principales:	Kaya, Esra, Kayıkçıoğlu, Meral, Vardarlı, Aslı Tetik, Eroğlu, Zuhal, Payzın, Serdar, Can, Levent
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Kare Publishing 2017
Materias:	Original Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731522/ https://www.ncbi.nlm.nih.gov/pubmed/28777095 http://dx.doi.org/10.14744/AnatolJCardiol.2017.7654

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