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Article

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Atherosclerosis - 1 May 2011

Dušková Lucie, Kopečková Lenka, Jansová Eva, Tichý Lukáš, Freiberger Tomáš, Zapletalová Petra, Soška Vladimír, Ravčuková Barbora, Fajkusová Lenka

Abstract excerpt

OBJECTIVE: Familial hypercholesterolemia (FH) is an inborn disorder of lipid metabolism characterised by elevated plasma concentrations of low-density lipoprotein cholesterol and total cholesterol. This imbalance results in accelerated atherosclerosis and premature coronary heart disease. The early identification and treatment of FH patients is extremely important because it leads to significant reduction of both...

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Source

Identifiers

PMID: 21310417
DOI: 10.1016/j.atherosclerosis.2011.01.023

Genes

LDLR
APOB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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