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Top: scheme of the splicing pattern of exons 4–10 of the GALC gene in the wt allele (above the figure) and in the allele bearing the c.583-1G>C mutation (below the figure, only the skipping of exon 6 is indicated). Arrows correspond to primers used for the PCR shown below. Bottom: PCR amplification of cDNAs from the father of patient #10 and from two wild-type individuals. A scheme of exons 5–7 is indicated. M molecular weight markers
