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Article

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

Journal of lipid research - 1 Mar 2012

Di Filippo Mathilde, Créhalet Hervé, Samson-Bouma Marie Elisabeth, Bonnet Véronique, Aggerbeck Lawrence P, Rabès Jean-Pierre, Gottrand Frederic, Luc Gérald, Bozon Dominique, Sassolas Agnès

Abstract excerpt

Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient with an unusual clinical and biochemical ABL phenotype. She presented with severe liver injury, low levels of LDL-cholesterol, and...

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Source

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Identifiers

PMID: 22236406
DOI: 10.1194/jlr.M020024
PMCID: PMC3276478

Genes

MTTP

Variants

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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