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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda

Fig. 2

Functional analysis using HEK293 T cells. A-C Confocal microscopy images at 10X showing the co-localization of the nuclear material (blue) and tGFP fused TRMT61 A protein (green) of tGFP, wild type and mutant, respectively. D Wild type TRMT61 A at 40X showing a nuclear and cytoplasmic localisation (white arrows), E Mutant TRMT61 A at 40X showing a predominant nuclear accumulation (white arrows), F-G Western blot analysis showing the decreased level of the normalised target signal in the mutant protein compared to the wild type. L: stands for the ladder, WT: wild type and MT: mutant

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BMC Medical Genomics

ISSN: 1755-8794

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