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. 2009 Mar;11(2):131–139. doi: 10.2353/jmoldx.2009.080129

Figure 3.

Figure 3

Characterization of variant c.1409-2_1409delAGG (patient 1476). A: Sequencing pattern of genomic DNA reveals the mutation in the splice acceptor site of exon 11. B: Agarose gel showing the RT-PCR product obtained with primers localized in exon 9F and in exon 13R in patient 1476 (P) and in a control (C), indicated by a white arrow. C: Diagram representing the mutation on genomic DNA and the two aberrant transcripts detected by RT-PCR leading to premature stop codons. Arrows indicate primer positions.