Fig. 2.

Direct sequencing of GBA cDNA. (a) Wild-type alleles sequenced from the forward primer. The dashed line indicates the boundary between exons 9 and 10. (b) Normal and mutant alleles from a GD patient carrying IVS10+1G>T, sequenced from the forward primer. The dashed lines indicate the boundary between exons 9 and 10 in the normal allele and between exons 9 and 11 in the mutant allele, respectively. Schematic diagrams of (c) the normal splicing pattern and (d) the aberrant splicing pattern due to the IVS10+1G>T mutation