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Functional impairment of the mutant TBX1 protein. Activation of 4XT promoter-driven luciferase reporter in COS-7 cells by wild-type TBX1 or S233Y-mutant TBX1, alone or in combination. The S233Y-mutant TBX1 significantly decreased transcriptional activity. Experiments were performed in triplicate. Data are presented as the mean ± standard deviation. -, empty pcDNA3.1 plasmid. ***P<0.003; **P<0.004; *P<0.014.
