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Article

Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia.

Revista espanola de cardiologia (English ed.) - 1 Aug 2021

Lamiquiz-Moneo Itziar, Civeira Fernando, Mateo-Gallego Rocío, Laclaustra Martín, Moreno-Franco Belén, Tejedor María Teresa, Palacios Lourdes, Martín César, Cenarro Ana

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Our objective was to approximate the prevalence of mutations in candidate genes for familial hypercholesterolemia (FH) in a middle-aged Spanish population and to establish the predictive value of criteria for clinical suspicion in the detection of causative mutations. METHODS: Unrelated individuals aged ≥ 18 years from the Aragon Workers' Health Study (AWHS) with high low-density...

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PMID: 32660911
DOI: 10.1016/j.rec.2020.06.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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