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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Intellectual disability associated with a homozygous missense mutation in THOC6

Figure 2

Cellular localization of transfected WT and p.Gly46Arg THOC6. Left panels, HeLa cells were transiently transfected with FLAG-tagged WT THOC6 (A) or THOC6 p. G46R (B). Green fluorescence (Alexa Fluor 488) indicates the position of the FLAG-tagged THOC6 proteins within the cell. Middle panels, DAPI staining indicates the position of the nuclei. Right panels, merged DAPI and THOC6 images shows nuclear localization of WT THOC6 protein (A) whereas, the mutant THOC6 p.G46R protein was confined to the cytoplasm (B).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172