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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 mutati...

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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 2 Sept 2026. Prepared record publication-17570373-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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