Figure 4 | Scientific Reports

Figure 4

From: Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing

Figure 4

The cDNA sequence analysis of IVS 8[−10]G>A variants on mRNA splicing.

(A) The PCR amplification products were analyzed by Agilent 2100 bioanalyzer. III-1 is the proband, II-1 is his father and control is a healthy control. (B) The red band shows the intron 8 area. The red capital letter represents the amino acids that would be changed by the mutation. The red band shows the eight nucleotides from intron 8. The red capital letter represents the amino acids changed by the mutation.

Back to article page