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Article

Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.

Atherosclerosis - 1 Dec 2023

Junna Nella, Ruotsalainen Sanni, Ripatti Pietari, FinnGen, Ripatti Samuli, Widén Elisabeth

Abstract excerpt

BACKGROUND AND AIMS: Severe hypercholesterolemia (LDL-cholesterol ≥ 5 mmol/l) is a major risk factor for coronary artery disease (CAD). The etiology incudes both genetic and nongenetic factors, but persons carrying mutations in known hypercholesterolemia-associated genes are at significantly higher CAD risk than non-carriers. Yet, a significant proportion of mutation carriers remains undetected while the...

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PMID: 37848354
DOI: 10.1016/j.atherosclerosis.2023.117327

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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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