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. Author manuscript; available in PMC: 2019 Jul 24.
Published in final edited form as: Hum Genet. 2018 Nov 19;137(11-12):921–939. doi: 10.1007/s00439-018-1957-1

Fig. 4.

Fig. 4

POLR3A splicing defect caused by c.3337-5T > A mutation results in skipping of exon 26. Agarose gel electrophoresis of POLR3A RT-PCR products. The proband and father both carry the c.3337-5T > A mutation, resulting in a smaller band of ~ 287 bp corresponding to a cDNA missing exon 26 compared to the size of the wild-type band of ~ 380 bp (a). Sanger sequence traces of gel-extracted POLR3A RT-PCR products, demonstrating wild-type sequence of the larger band (top) and exon 26 skipping, both from individual 4 (bottom) (b)