Figure 1. Comparison of three mutation detection systems used in this study

A: Denaturing high performance liquid chromatography profiles of mutant (red) and wild-type (green) alleles of three WDR36 missense mutations. B: RFLP analysis. The following abbreviations were used: 100 bp ladder (M), restriction digest of mutant PCR product (Mut), and restriction digest of control PCR product (WT). C: DNA sequence analysis.