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Article

Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.

Atherosclerosis - 1 Nov 2009

Charrière S, Cugnet C, Guitard M, Bernard S, Groisne L, Charcosset M, Pruneta-Deloche V, Merlin M, Billon S, Delay M, Sassolas A, Moulin P, Marçais C

Abstract excerpt

OBJECTIVE: To provide phenotypic and functional data in new patients with APOA5 mutations and to identify genetic and metabolic factors influencing their phenotypic expression. METHODS AND RESULTS: By sequencing APOA5 gene in a cohort of 286 hyperchylomicronemic subjects, free of LPL or APOC2 mut...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19447388
DOI: 10.1016/j.atherosclerosis.2009.04.021

Genes

APOA5
LPL
APOC2
APOE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19447388-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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