PMID: 23329134

Gene transfer of apolipoprotein A-V improves the hypertriglyceridemic phenotype of apoa5 (-/-) mice.

Arteriosclerosis, thrombosis, and vascular biology
V Sharma, JA Beckstead, JB Simonsen, L Nelbach, G Watson, TM Forte, RO Ryan
2013-03

6 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 -
11-116661512-G-A APOA5 c.433C>T p.Gln145* Nonsense 4/4 -
11-116661503-G-A APOA5 c.442C>T p.Gln148* Nonsense 4/4 -
8-133885381-G-T TG c.553G>T p.Ala185Ser Missense 5/48 -
8-133879301-C-G TG c.56C>G p.Ala19Gly Missense 1/48 -
11-116661656-G-A APOA5 c.289C>T p.Gln97* Nonsense 4/4 -