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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

Figure 4

(A, C) Competitive EMSAs. Fluorescent labeled FTL wild type probe was incubated with increasing molar excess concentration (1x, 2x, 5x, 10x, 20x and 40x) of unlabeled competitors corresponding to the FTL IRE wild type sequence (lanes 3–8) or the mutants +39ΔC (lanes 9–14), Badalona +36C > U (lanes 17–22), Milano +36C > G (lanes 23–28), Heidelberg +52 G > C (lanes 31–36) or Torino +29C > G (lanes 37–42). Samples were then incubated with either rIRP1 (panel A) or rIRP2 (panel C) and resolved on acrylamide gels. One representative gel is shown. F indicates free probe and N indicates no competitor added. (B, D) Quantification of the signals in competitive EMSAs compared to the signal in lane N (taken as 100%) are represented in logarithmic scale. Means ± SD of at least three independent experiments are shown.

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