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The residual activity of mutants transiently transfected and expressed in vitro and derived from patient cells is shown. In case that multiple reports are available for a given mutant, the average value was plotted. Results in the absence of DGJ (A) or in the presence of DGJ (B) are reported. Mutations affecting a site of splicing and corresponding to G183, are represented by red symbols, G128E is represented by a green symbol.
