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. 2018 May 28;39(8):1102–1111. doi: 10.1002/humu.23551

Figure 2.

Figure 2

Complementation assay on VUS reported in DBA patients. A: Representative Northern blot experiments. Patient cells have an increased 21S/18SE rRNA ratio, that is corrected by the expression of a wild‐type RPS19 transgene but not by the expression of RPS19 carrying a pathogenic mutation. Upper panels show Northern blotting, lower panels show corresponding RNA gels stained by a fluorescent nucleic acid dye. C: control, P1: patient 1, P2: patient 2. B: Densitometry quantification of 21S/18SE ratio calculated on repeated Northern blot experiments. Asterisks represent statistically significant differences (P < 0.05) between samples with wild‐type and mutant exogenous RPS19. Error bars represent standard error of the mean