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Expression analysis of the mutant EFTUD2 allele of patient 7 with a splice site mutation, c.2562-1G>C. Part of the EFTUD2 transcript was amplified, products were subcloned, and individual clones sequenced (see Methods). Four different clones were identified, representing the wild-type allele and three different splice products from the mutant allele. The splice junctions of the wild type (wt, upper row) and of the mutant splice products (mt1, mt2, mt3, lower row) are depicted.
