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Article

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

Human molecular genetics - 1 Apr 2014

Alves Ana Catarina, Etxebarria Aitor, Soutar Anne Katherine, Martin Cesar, Bourbon Mafalda

Abstract excerpt

Familial hypercholesterolaemia (FH) is characterized by increased circulating low-density lipoprotein (LDL) cholesterol leading to premature atherosclerosis and coronary heart disease. Although FH is usually caused by mutations in LDLR, mutations in APOB and PCSK9 also cause FH but only a few mutations have been reported, APOB p.R3527Q being the most common. However, 30-80% of clinical FH patients do not present...

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Topics

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Share to Apolipoproteins B
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hep G2 Cells

Share to Hyperlipoproteinemia Type II

Share to Proprotein Convertase 9

Share to Proprotein Convertases

Share to Receptors, LDL

Share to U937 Cells

Source

Identifiers

PMID: 24234650
DOI: 10.1093/hmg/ddt573

Genes

APOB
LDLR
PCSK9

Variants

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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