PMID: 24788417

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

PloS one
M Di Filippo, C Marçais, S Charrière, O Marmontel, M Broyer, M Delay, M Merlin, A Nollace, R Valéro, M Lagarde, V Pruneta-Deloche, P Moulin, A Sassolas
2014

11 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 -
11-116660918-G-A APOA5 c.1027C>T p.Arg343Cys Missense 4/4 -
11-116661301-G-A APOA5 c.644C>T p.Pro215Leu Missense 4/4 -
8-19811688-CC-C LPL c.599delC p.Pro200Leufs*7 Frameshift 5/10 -
11-116661187-A-G APOA5 c.758T>C p.Leu253Pro Missense 4/4 -
11-116661062-G-A APOA5 c.883C>T p.Gln295* Nonsense 4/4 -
11-116661656-G-A APOA5 c.289C>T p.Gln97* Nonsense 4/4 -
8-19811769-T-G LPL c.680T>G p.Val227Gly Missense 5/10 -
19-45452024-A-C APOC2 c.122A>C p.Lys41Thr Missense 3/4 -
11-116661617-A-AA APOA5 c.328dupT p.Tyr110Leufs*158 Frameshift 4/4 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -