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

Abstract

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 hyperchylomicronemia. A heterozygous Q139X mutation in APOA5 was present in both… (More)

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Cite this paper

@article{Marais2005Apoa5QT, title={Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.}, author={Christophe Marçais and Bruno Verg{\`e}s and Sybil Charri{\`e}re and Val{\'e}rie Pruneta and Micheline Merlin and St{\'e}phane Billon and Laurence Perrot and Jocelyne Drai and Agn{\`e}s Sassolas and Len A. Pennacchio and Jamila Fruchart-Najib and Jean-charles Fruchart and Vincent Durlach and Philippe Moulin}, journal={The Journal of clinical investigation}, year={2005}, volume={115 10}, pages={2862-9} }