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Fig. 7. Effect of the cystinotic point mutation G308R on cystine uptake. Amount of [35S]cystine accumulated by mock-transfected, cystinosin-ΔGYDQL-expressing and cystinosin-G308R-ΔGYDQL-expressing cells in a neutral (hatched bars) and acidic (grey bars) uptake medium. The introduction of the G308R point mutation associated with infantile cystinosis abolishes cystine transport by cystinosin-ΔGYDQL.
