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Article

LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.

Lipids in health and disease - 2 Feb 2024

Konečná Kateřina, Zapletalová Petra, Freiberger Tomáš, Tichý Lukáš

Abstract excerpt

BACKGROUND: Large deletions and duplications within the low-density lipoprotein receptor (LDLR) gene make up approximately 10% of LDLR pathogenic variants found in Czech patients with familial hypercholesterolemia. The goal of this study was to test the hypothesis that all probands with each rearrangement share identical breakpoints inherited from a common ancestor and to determine the role of Alu repetitive...

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Identifiers

PMID: 38308247
DOI: 10.1186/s12944-024-02013-3
PMCID: PMC10835926

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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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