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Article

LDLR variants functional characterization: Contribution to variant classification.

Atherosclerosis - 1 Jul 2021

Alves Ana Catarina, Azevedo Sílvia, Benito-Vicente Asier, Graça Rafael, Galicia-Garcia Unai, Barros Patrícia, Jordan Peter, Martin Cesar, Bourbon Mafalda

Abstract excerpt

BACKGROUND AND AIMS: Familial hypercholesterolaemia (FH) is an autosomal disorder of lipid metabolism presenting with increased cardiovascular risk. LDLR mutations are the cause of disease in 90% of the cases but functional studies have only been performed for about 15% of all LDLR variants. In the Portuguese Familial Hypercholesterolemia Study (PFHS), 142 unique LDLR alterations were identified and 44 (30%) lack...

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PMID: 34167030
DOI: 10.1016/j.atherosclerosis.2021.06.001

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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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