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Article

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.

Atherosclerosis - 1 Jul 2016

Rimbert Antoine, Pichelin Matthieu, Lecointe Simon, Marrec Marie, Le Scouarnec Solena, Barrak Elias, Croyal Mikael, Krempf Michel, Le Marec Hervé, Redon Richard, Schott Jean-Jacques, Magré Jocelyne, Cariou Bertrand

Abstract excerpt

BACKGROUND AND AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by decreased plasma levels of LDL-cholesterol and apolipoprotein B (ApoB). Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB and PCSK9 gene mutations and on western blotting to detect truncated ApoB species. METHODS: Here, we applied targeted enrichment and next-generation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27179706
DOI: 10.1016/j.atherosclerosis.2016.04.010

Genes

APOB
PCSK9
ANGPTL3
MTTP

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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