PMID: 16200213

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

The Journal of clinical investigation

C Marçais, B Verges, S Charrière, V Pruneta, M Merlin, S Billon, L Perrot, J Drai, A Sassolas, LA Pennacchio, J Fruchart-Najib, JC Fruchart, V Durlach, P Moulin

2005-10

2 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
11-116661530-G-A	APOA5	c.415C>T	p.Gln139*	Nonsense	4/4	-
11-116661503-G-A	APOA5	c.442C>T	p.Gln148*	Nonsense	4/4	-