Silver-stained 2-DE gel of proteins from a typical healthy control (a), R306C (b), T158M (c), R168X (d), and large deletions (exons 3 and 4) (e). 60 μg of total protein was subjected with nonlinear IPG strips, with a pH range of 3 to 10, followed by SDS-polyacrylamide gradient gel (8–16% T) electrophoresis. Numbers denote the identified proteins by mass spectrometry and are listed in Table 1 and Supplementary Table. Molecular mass (kDa) and pI markers are indicated along the gels.
