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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour

Figure 3

ATP7A mRNA expression in the patients. Barchart showing the relative ATP7A mRNA expression in 9 patients, compared to control fibroblasts with a defined value of 100. The analysis has, for each patient, been performed on cDNAs from two different RNA preparations. The amount of GAPDH transcript was used as a normalization reference. The samples were analysed in triplicates. In all experiments, the amounts of ATP7A and GAPDH mRNA were calculated by linear regression of the lines generated by the standard curves; log cDNA concentration against CT (see Materials and Methods). The presented results show the mean value of the two cDNA preparations. Error bars represents the standard deviation of the results obtained from the two RNA preparations. The normalized ATP7AN value was calculated by dividing the ATP7A mRNA value by the GAPDH mRNA value in parallel samples. The value relative to unaffected control fibroblasts was calculated by dividing the normalized ATP7AN value from each patient by the normalized ATP7AN value obtained from control fibroblasts. The average ATP7A expression from fibroblasts from four independent healthy individuals (controls) is presented in the grey bar.

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