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Article

Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.

Clinica chimica acta; international journal of clinical chemistry - 22 Mar 2012

Martín-Campos Jesús M, Roig Rosa, Mayoral Carme, Martinez Silvia, Martí Gertrudis, Arroyo Juan Antonio, Julve Josep, Blanco-Vaca Francisco

Abstract excerpt

BACKGROUND: Familial hypobetalipoproteinemia (FHBL), characterized by extremely low levels of plasma apolipoprotein (apo) B and cholesterol associated with low-density lipoproteins (LDLc), is considered to be an autosomal co-dominant disorder of heterogeneous origin. The main genetic disorder associated with FHBL consists of mutations in the APOB gene, while other less frequent forms are associated with mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22155345
DOI: 10.1016/j.cca.2011.11.020

Genes

ANGPTL3
APOB
PCSK9

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.

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