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. 2017 Jun 14;25(9):1078–1082. doi: 10.1038/ejhg.2017.97

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Copyright © 2017 The Author(s)

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GPKOW full length WT mRNA and protein are significantly reduced in the c.331+5G>A LCL clone (MT). (a) Graph showing GPKOW mRNA levels relative to ACTB. RT-qPCR data from independent WT clones (n=3), c.331+5G>A clones (n=2; different passages of the same culture) from the carrier female II-2, and normal controls (n=3) was averaged and error bars show SD. (b) Western blot showing full length GPKOW from independent WT clones (n=3), the c.331+5G>A clone (n=2; different passages of the same culture; P1, P2), and normal controls (n=3). An additional band at around 40kDa in the c.331+5G>A (MT) clones P1 and P2 corresponds to the predicted size of a truncated protein translated from transcript D. (c) Graph showing the mean densitometry values of full length GPKOW protein relative to β-actin. Western blot signals in (b) were measured by ImageJ software and normalised to housekeeping β-actin protein. Error bars show SD.