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Article

Functional analysis of new 3' untranslated regions genetic variants in genes associated with genetic hypercholesterolemias.

Journal of clinical lipidology - 1 Jan 2000

Pérez-Campo Flor María, De Castro-Orós Isabel, Noriega Alicia, Cofán Montserrat, Lamiquiz-Moneo Itziar, Cenarro Ana, Ros Emilio, Civeira Fernando, Pocoví Miguel, Rodríguez-Rey José Carlos

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is the best-described autosomal dominant genetic hypercholesterolemia (GH). Mutations in candidate genes can explain a high proportion of FH cases, but for many, no causative mutations are detected (designed non-FG-GH), suggesting the existence of additional genetic variants associated with the disease. OBJECTIVE: We aimed to identify new single-nucleotide variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28502511
DOI: 10.1016/j.jacl.2017.02.004

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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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