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Fig. 6 | Italian Journal of Pediatrics

Fig. 6

From: A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

Fig. 6

CDNA sequencing analysis revealed that the c.575G > T nucleotide mutation was introduced into phage -PDHB-mut. B PDHB mRNA expression in wild-type transfected cells and in mutant transfected cells (qPCR). C PDH protein expression in wild-type transfected cells and in mutant transfected cells. D PDH activity were measured in wild-type transfected cells and in mutant transfected cells. The data is representative of three independent experiments in qPCR, western blot, and PDH activity measurement. Data were presented as mean ± SD. Statistical significance was analyzed using two-way ANOVA with Dunnett’s multiple comparisons test. ***: compared to wild-type transfected cells, P < 0.001

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