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Article

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

Molecular genetics and metabolism - 1 Feb 2009

Di Leo Enza, Magnolo Lucia, Pinotti Elisa, Martini Scipione, Cortella Irene, Vitturi Nicola, Rabacchi Claudio, Wunsch Alessia, Pucci Francesco, Bertolini Stefano, Calandra Sebastiano, Tarugi Patrizia

Abstract excerpt

Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by reduced plasma levels of low density lipoprotein cholesterol (LDL-C) and its protein constituent apolipoprotein B (apoB), which may be due to mutations in APOB gene, mostly located in the coding region of this gene. We report two novel APOB gene mutations involving the acceptor splice site of intron 11 (c.1471-1G>A) and of intron...

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Identifiers

PMID: 19084451
DOI: 10.1016/j.ymgme.2008.10.016

Genes

APOB

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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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Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.PMID 19084451Read ↗

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