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Article

High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent.

Journal of medical genetics - 1 Apr 2005

Fouchier S W, Sankatsing R R, Peter J, Castillo S, Pocovi M, Alonso R, Kastelein J J P, Defesche J C

Abstract excerpt

BACKGROUND: Familial hypobetalipoproteinaemia (FHBL) is an autosomal co-dominant hereditary disorder of lipoprotein metabolism characterised by decreased low density lipoprotein (LDL) cholesterol and apolipoprotein B (APOB) plasma levels. High levels of plasma APOB and LDL cholesterol are strong predictors for risk of cardiovascular disease (CVD), while individuals with low APOB and LDL cholesterol levels are...

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Topics

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Share to Apolipoproteins B
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 15805152
DOI: 10.1136/jmg.2004.029454
PMCID: PMC1736043

Genes

APOB
APOA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent.PMID 15805152Read ↗

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Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene.Semantic proximity Read ↗

Novel APOB mutation in familial hypobetalipoproteinemia.Semantic proximity Read ↗

Lipid disorders and mutations in the APOB gene.Semantic proximity Read ↗

[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene].Semantic proximity Read ↗

Identification and molecular analysis of two apoB gene mutations causing low plasma cholesterol levels.Semantic proximity Read ↗

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