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The analyses showed that [HBA2 c-59C>T] and [HBA2 c.-91G>A] mutant constructs caused significant reduction in the HBA2 transcription levels by 53.7% (p = 0.0008) and 36.2% (p = 0.004), respectively, resulting in markedly lower HBA2 protein labelling when compared to the wild type as shown with subsequent IFC analysis.
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Whereas expression of mutant forms of lamC have been shown to cause phenotypes in Drosophila [5], [6], overexpression of a wildtype lamC cDNA construct caused no noticeable phenotypes, and adults were fully fertile when using the same drivers and conditions that killed flies bearing lam constructs (data not shown, but see Table 2 for the GAL4 drivers).
Two of the newly found mutations caused a drastic reduction of GMPPB expression: no expression was detectable for p.V254M (found in Case 3) and p.R287W (found in Case 1) mutant constructs (Fig. 6A).
Each of these mutant constructs was analysed individually.
The second region was defined by mutant constructs M8B, M9B, and deletion construct D1A.
Each of these mutant constructs resulted in faithful mutant protein expression as shown in Figure 3B.
pGFP-F2As-CherryFP Mutant Constructs.
AK made site-directed mutant constructs.
CSD and NBB made mutant constructs.
HEK293 cells were transfected with wild-type or mutant constructs.
Two mutant constructs were generated by either deletion or mutations.
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