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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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Detalhes bibliográficos
Publicado no:Anatol J Cardiol
Main Authors: Kaya, Esra, Kayıkçıoğlu, Meral, Vardarlı, Aslı Tetik, Eroğlu, Zuhal, Payzın, Serdar, Can, Levent
Formato: Artigo
Idioma:Inglês
Publicado em: Kare Publishing 2017
Assuntos:
Acesso em linha: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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