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Figure 4. Electron microscopic findings in AP-5 patient cells

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1 Figure 4. Electron microscopic findings in AP-5 patient cells
Electron microscopic findings in AP-5 patient cells Patient-derived fibroblasts from a number of AP5Z1 patient lines were fixed and processed for conventional electron microscopy. Note the accumulation of aberrant lamellar storage material in patient 1 (p.Q578*) homozygous fibroblasts compared with age-matched controls. For comparison, similar accumulations are seen in other nonsense AP5Z1 patients (p.R27Lfs*3, p [R138*]; [W441*]); the clinical features of these patients have been reported previously.1,2 Jennifer Hirst et al. Neurol Genet 2016;2:e98 © 2016 American Academy of Neurology

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