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A) Samples from previously reported patients with Alu insertion in MAK exon 9 [21] and control samples were PCR amplified to detect homozygous alleles for Alu insertion and WT alleles. B) Sequence of the inserted element (280 bp Alu, 54 bp poly-A and 13 bp duplication of exon 9 sequence). C) Sanger sequence of the exon 9 Alu insertion breakpoints.
