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Table 1.

Ferritin level

 FtL (ng/mg prot.) FtH (ng/mg prot.) 
CTR1 11 ± 1.5 162 ± 12.7 
CTR2 19 ± 7.0 116 ± 17.0 
CTR3 10 ± 3.0 133 ± 23.0 
E104X Undetected 148 ± 23.0 
E104X-Lwt 14 ± 1.0 135 ± 33.0 
 FtL (ng/mg prot.) FtH (ng/mg prot.) 
CTR1 11 ± 1.5 162 ± 12.7 
CTR2 19 ± 7.0 116 ± 17.0 
CTR3 10 ± 3.0 133 ± 23.0 
E104X Undetected 148 ± 23.0 
E104X-Lwt 14 ± 1.0 135 ± 33.0 

L (FtL) and H (FtH) chain ferritin was analyzed in cell extracts of fibroblasts from three different healthy control probands, our patient (E104X), and patient fibroblasts with forced FtL expression (E104X-Lwt) by an ELISA. The results are shown as nanograms/milligram of ferritin of total soluble proteins. The values are the means and SD of three independent experiments.

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