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Article

Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease.

Annals of hepatology - 1 Jan 2000

Gutiérrez-Cirlos Carlos, Ordóñez-Sánchez María Luisa, Tusié-Luna María Teresa, Patterson Bruce W, Schonfeld Gustav, Aguilar-Salinas Carlos A

Abstract excerpt

INTRODUCTION: Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disease characterized by abnormally low levels of apolipoprotein-B (apoB) containing lipoproteins. FHBL is caused by APOB, PCSK9 or ANGPTL3 mutations or is associated with loci located in chromosomes 10 and 3p21. However, other genes should be involved. This study describes the kinetic parameters of the apoB containing lipoproteins and...

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Source

Identifiers

PMID: 21502677

Genes

PCSK9
APOB
ANGPTL3

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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