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Article

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

American journal of human genetics - 1 Dec 1995

Narcisi T M, Shoulders C C, Chester S A, Read J, Brett D J, Harrison G B, Grantham T T, Fox M F, Povey S, de Bruin T W

Abstract excerpt

Elevated plasma levels of apolipoprotein B (apoB)-containing lipoproteins constitute a major risk factor for the development of coronary heart disease. In the rare recessively inherited disorder abetalipoproteinemia (ABL) the production of apoB-containing lipoproteins is abolished, despite no abnormality of the apoB gene. In the current study we have characterized the gene encoding a microsomal...

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Identifiers

PMID: 8533758
PMCID: PMC1801399

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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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