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. 2010 Apr 6;16(7-8):316–321. doi: 10.2119/molmed.2010.00017

Figure 1.

Figure 1

Western blot analysis of wild-type and mutant ASM enzymes following transient expression in COS-7 cells. Each of the seven novel missense mutations was introduced into the full-length SMPD1 cDNA. Below each lane the predicted phenotype of the mutations (based on transient expression data in COS-7 or 293T cells; see Table 3) is shown. As controls, the wild-type cDNA also was used, along with mutant constructs representing two known mutations (V132A and R602P). β-actin was used as a loading control. The mock transfection included the empty pcDNA vector. The immunoblot is representative of three independent experiments.