Figure 1

Figure 1

 Analysis of NPHP1 deletion. Lanes 1 and 5: 100 bp DNA size standard; lanes 2 and 6: multiplex A and B for the negative control (healthy subject); lanes 3 and 7: multiplex A and B for patient EC; lanes 4 and 8: multiplex A and B for the positive control (patient with juvenile NPH and with previously confirmed NPHP1 deletion). In patient EC, the analysis showed a homozygous deletion of both markers 804/6 and 9657T-1/2, while the two control markers amplified normally.