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Article

Molecular characterization of familial hypercholesterolemia in Spain.

Atherosclerosis - 1 Mar 2012

Palacios Lourdes, Grandoso Laura, Cuevas Nerea, Olano-Martín Estíbaliz, Martinez Antonio, Tejedor Diego, Stef Marianne

Abstract excerpt

Familial hypercholesterolemia (FH), characterized by isolated elevation of plasmatic low-density lipoprotein (LDL) cholesterol and premature coronary heart disease (CHD), is associated with mutations in three major genes: LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin 9 (PCSK9). We have analyzed 5430 Spanish index cases and 2223 relatives since 2004 with LIPOchip(®)...

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Share to Apolipoproteins B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22244043
DOI: 10.1016/j.atherosclerosis.2011.12.021

Genes

LDLR
APOB
PCSK9

Variants

Provenance

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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