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Article

Genetics and biochemistry of familial hypercholesterolemia in Southwest of the Iberian Peninsula.

Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis - 1 Jan 2000

Roa Garrido Jessica, Carrasco Salas Pilar, Toscano Pérez Clara, Arrobas Velilla Teresa, Vázquez Rico Ignacio, Díaz Fernández José Francisco

Abstract excerpt

So far, most cases of hypercholesterolaemia (60-80%) are attributed to pathogenic variants in the LDLR gene. Only 1-5% of cases are caused by variants in the APOB gene, and 0-3% by variants in the PCSK9 gene. There is a large variety in known pathogenic mutations of the LDLR gene, while for those affecting the APOB gene, the highest incidence is p.Arg3527Gln, described predominantly in Central European and North...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33069457
DOI: 10.1016/j.arteri.2020.08.003

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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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