Fig. 2
From: Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome
A missense mutation and a large fragment deletion in proband B. a The average RDs of all exons in LPL. Upper left: The average RDs of all exons in LPL from NGS showing normal sequence from a control individual. Upper right: The average RDs of all exons in LPL from KD-6 (father of proband B) showing no mutation. Bottom Left: The average RDs of all exons in LPL from KD-5 (mother of proband B) showing that there is a large fragment deletion (exon8-exon10). Bottom Right: The average RDs of all exons in LPL from KD-7 (proband B) showing that there is a large fragment deletion (exon8-exon10). b Sgdv1n132*10 was the control of QPCR for exon8-exon10. The result showing that KD-6 was normal, KD-5 and KD-7 were large fragment deletion carriers