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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Fig. 2

ATP8A2 expression in gut endoderm cells differentiated from patient and control fibroblasts. a ATP8A2 RNA expression levels were determined by Taqman qPCR; data were normalized to TBP and are expressed as an average +/− SEM for n = 4. b Representative western blots of foregut endodermal cell lysates, differentiated from control or patient induced pluripotent stem cells, and labeled for ATP8A2 and actin (loading control). c Quantification of ATP8A2 protein expression from western blots expressed as an average +/-SEM for n = 4. P values ** are ≤0.01

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