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. 2015 Feb 20;3:5–10. doi: 10.1016/j.ymgmr.2015.01.004

Fig. 1.

Fig. 1

Detection and characterization of the GFM1 mutations. (A) Sequence traces of c.130_137delinsAAAAAAAA, (B) c.964G>A and c.1655T>G. (C) EFG1 sequence alignment between different species. All the affected amino acids are located in highly conserved regions across species. (D) Western blot analysis of EFG1, lanes P1–3: patients' fibroblasts, lanes C1–C2: controls' fibroblasts. The band of ~ 83 kDa corresponds to the expected size for EFG1. An antibody against porin was used as a loading control.