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Article

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

Anatolian journal of cardiology - 1 Oct 2017

Kaya Esra, Kayıkçıoğlu Meral, Tetik Vardarlı Aslı, Eroğlu Zuhal, Payzın Serdar, Can Levent

Abstract excerpt

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. METHODS: A total of 80 consecutive patients with FH (mean age: 56±11 years; mean maximum...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28777095
DOI: 10.14744/AnatolJCardiol.2017.7654
PMCID: PMC5731522

Genes

PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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