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Article

Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.

Atherosclerosis - 1 Mar 2015

Cefalù Angelo B, Norata Giuseppe D, Ghiglioni Daniele G, Noto Davide, Uboldi Patrizia, Garlaschelli Katia, Baragetti Andrea, Spina Rossella, Valenti Vincenza, Pederiva Cristina, Riva Enrica, Terracciano Luigi, Zoja Alexa, Grigore Liliana, Averna Maurizio R, Catapano Alberico L

Abstract excerpt

OBJECTIVE: Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein metabolism characterized by low plasma levels of total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5(th) percentile of the distribution in the population. Patients with the clinical diagnosis of homozygous FHBL (Ho-FHBL) are extremely rare and few patients have...

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Source

Identifiers

PMID: 25618028
DOI: 10.1016/j.atherosclerosis.2015.01.014

Genes

APOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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