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Fig. 3 | Lipids in Health and Disease

Fig. 3

From: Identification of deleterious rare variants in MTTP, PNPLA3, and TM6SF2 in Japanese males and association studies with NAFLD

Fig. 3

Functional assessment of variants at intron-exon junctions. a Intron 6 to intron 8 of TM6SF2 was inserted into intron 1 of ACKR1 under control of the CMV promoter. b Intron 4 to 5 of PNPLA3 was inserted into intron 1 of TRIB2. The constructs were transfected into Huh-7 cells. Twenty-four hours after transfection, total RNA was extracted from the transfected cells, and the corresponding cDNA was used as a template for RT-PCR. The amplicon sizes of each RT-PCR product were measured with a 2100 BioAnalyzer. Estimated splicing variants from amplicon sizes are shown on the left side

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