fig3

A novel homozygous variant in the <i>ABCG8</i> gene identified in a child with sitosterolemia

Figure 3. The results of minigene verification. (A) Minigenes were constructed with the pcDNA3.1 vector; (B) Transcription analysis of the minigene. Band a corresponds to the normally spliced transcript (713 bp), whereas band b shows a deletion of 71 bases from the 3’ region of exon 5; (C) Cartoon illustration of the splicing abnormalities in the minigene experiment. “a” means band a, normal transcript; and “b” means band b, aberrantly spliced product; (D) Sanger sequencing of the minigene cDNA. “a” means band a, normal transcript; and “b” means band b, aberrantly spliced product.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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