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Article

Hypobetalipoproteinemia and abetalipoproteinemia.

Current opinion in lipidology - 1 Jun 2014

Welty Francine K

Abstract excerpt

PURPOSE OF REVIEW: Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. Mutations in the ANGPTL3 gene cause familial combined hypolipidemia. Clinical manifestations range from none to severe, debilitating, and life-threatening...

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Share to Apolipoproteins B
Share to Angiopoietins
Share to Angiopoietin-Like Protein 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Angiopoietin-like Proteins

Share to Biological Transport, Active

Share to Cholesterol, LDL

Share to Proprotein Convertase 9

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Source

Open in PubMed Open full text

Identifiers

PMID: 24751931
DOI: 10.1097/MOL.0000000000000072
PMCID: PMC4465983

Genes

PCSK9
ANGPTL3

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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