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Article

Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.

The Journal of clinical investigation - 1 Oct 2005

Marçais Christophe, Verges Bruno, Charrière Sybil, Pruneta Valérie, Merlin Micheline, Billon Stéphane, Perrot Laurence, Drai Jocelyne, Sassolas Agnès, Pennacchio Len A, Fruchart-Najib Jamila, Fruchart Jean-Charles, Durlach Vincent, Moulin Philippe

Abstract excerpt

While type 1 hyperlipidemia is associated with lipoprotein lipase or apoCII deficiencies, the etiology of type 5 hyperlipidemia remains largely unknown. We explored a new candidate gene, APOA5, for possible causative mutations in a pedigree of late-onset, vertically transmitted hyperchylomicronem...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16200213
DOI: 10.1172/JCI24471
PMCID: PMC1236672

Genes

APOA5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16200213-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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