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Article

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Circulation. Cardiovascular genetics - 1 Dec 2016

Sánchez-Hernández Rosa M, Civeira Fernando, Stef Marianne, Perez-Calahorra Sofía, Almagro Fátima, Plana Nuria, Novoa Francisco J, Sáenz-Aranzubía Pedro, Mosquera Daniel, Soler Cristina, Fuentes Francisco J, Brito-Casillas Yeray, Real Jose T, Blanco-Vaca Francisco, Ascaso Juan F, Pocovi Miguel

Abstract excerpt

BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDL protein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27784735
DOI: 10.1161/CIRCGENETICS.116.001545

Genes

LDLR
APOB
LDLRAP1
PCSK9

Provenance

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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