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Article

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

Biochimica et biophysica acta - 20 Jan 2004

Lancellotti Sandra, Di Leo Enza, Penacchioni Junia Y, Balli Fiorella, Viola Laura, Bertolini Stefano, Calandra Sebastiano, Tarugi Patrizia

Abstract excerpt

Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder either linked or not linked to apolipoprotein (apo) B gene. Abetalipoproteinemia (ABL) is a recessive disorder due to mutations of microsomal triglyceride transfer protein (MTP) gene. We investigated a patient with apparently recessive hypobetalipoproteinemia consistent with symptomatic heterozygous FHBL or a "mild" form of ABL. The proband had...

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PMID: 14732481
DOI: 10.1016/j.bbadis.2003.11.002

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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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