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Article

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.

Metabolic syndrome and related disorders - 1 Aug 2021

Turkyilmaz Ayberk, Kurnaz Erdal, Alavanda Ceren, Yarali Oguzhan, Kartal Baykan Emine, Yavuz Dilek, Cayir Atilla, Ata Pinar

Abstract excerpt

Background: Monogenic hypercholesterolemia with Mendelian inheritance is a heterogeneous group of diseases that are characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C) levels, and the most common form of this disorder is autosomal-dominant familial hypercholesterolemia (FH). Methods: A total of 104 index cases with the clinical diagnosis of FH were included in this study. Low-density...

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PMID: 33794673
DOI: 10.1089/met.2021.0004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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