Figure 2
LIS1 mutation detected by pyrosequencing using blood- and saliva-derived DNA. Pyrosequencing assay results show detection of the mutant p.K64X allele in blood (A) and saliva (B), but not in brain (C). The c.190 wild-type (A) and mutant (T) allele are shown in the shaded box. N.a.=no call.