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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

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

Figure 3

(A, B) Direct electrophoretic mobility shift assays. Fluorescent labeled probes corresponding to FTL IRE wild type (lanes 1–2), the mutations +39ΔC (lane 3), Badalona +36C > U (lane 4), Milano +36C > G (lane 5), Heidelberg +52 G > C (lane 6) and Torino +29C > G (lane 7) were incubated with either rIRP1 (panel A) or rIRP2 (panel B) and the IRP-IRE complex resolved on acrylamide gels. One representative gel is shown. (C, D) Quantification of the signals in direct EMSAs compared to the wild type FTL IRE signal that was set to 100%. Means ± SD (standard deviation) of at least three independent experiments are shown. *** p < 0.001.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172