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


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KAYA E., Kayikcioglu M. , Vardarli A. T. , Eroglu Z. , PAYZIN S. , Can L. H.

ANATOLIAN JOURNAL OF CARDIOLOGY, vol.18, no.4, pp.266-272, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.14744/anatoljcardiol.2017.7654
  • Title of Journal : ANATOLIAN JOURNAL OF CARDIOLOGY
  • Page Numbers: pp.266-272

Abstract

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.