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 -