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Article

Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.

Physiological research - 5 Apr 2017

Tichý L, Fajkusová L, Zapletalová P, Schwarzová L, Vrablík M, Freiberger T

Abstract excerpt

Autosomal dominant hypercholesterolemia (ADH), more known as familial hypercholesterolemia (FH), is a lipid metabolism disorder characterized by an elevation in low-density lipoprotein cholesterol (LDL-C) and increased risk for cardiovascular disease. In this study, we assessed a spectrum of mutations causing ADH in 3914 unrelated Czech patients with clinical diagnosis of hypercholesterolemia. Samples have been...

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Share to Apolipoprotein B-100
Share to Cholesterol, LDL
Share to Czech Republic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Background

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Share to Hyperlipoproteinemia Type II

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Source

Identifiers

PMID: 28379029
DOI: 10.33549/physiolres.933587

Genes

LDLR
APOB

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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