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. Author manuscript; available in PMC: 2018 May 1.
Published in final edited form as: Am J Med Genet A. 2017 Mar 29;173(5):1200–1207. doi: 10.1002/ajmg.a.38162

Figure 2. Expression of PHOX2B transcripts in Hela cells.

Figure 2

Expression constructs containing wild-type (WT) PHOX2B, N-terminal nonsense pathogenic variants, or empty vector (EV) were transiently transfected into Hela cells. Alpha tubulin was used as a loading control. All of the N-terminal nonsense variants produce proteins that are smaller in size than the WT protein. The WT construct expressed a minor band at the same size as the truncated proteins and the p.Tyr8* construct expressed a minor band the same size as the WT suggesting a small amount of nonspecific expression from the in vitro constructs.