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Article

Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

Atherosclerosis - 1 Dec 2007

Tarugi Patrizia, Averna Maurizio, Di Leo Enza, Cefalù Angelo B, Noto Davide, Magnolo Lucia, Cattin Luigi, Bertolini Stefano, Calandra Sebastiano

Abstract excerpt

Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (ABL) and chylomicron retention disease (CRD), with a recessive transmission, and familial hypobetalipoproteinemia (FHBL) with a co-dominant transmission. ABL and CRD are rare disorders due to mutations in the MTP and SARA2 genes, respectively. Heterozygous FHBL is much more frequent. FHBL subjects often have fatty...

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Source

Identifiers

PMID: 17570373
DOI: 10.1016/j.atherosclerosis.2007.05.003

Genes

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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