Fig. 1.

Direct DNA sequencing of the GBA gene. (a) Direct sequencing of part of exon 7 from the forward primer. The dashed line shows where three nucleotides (TGC) have been inserted, creating the 982-983insTGC mutation. (b) Direct sequencing of part of exon 10 from the forward primer. The first arrow indicates the T to C substitution (c.1499T>C) in the L461P mutation, while the second arrow points to the G to T substitution in the IVS10+1G>T variant. (c) Direct sequencing of part of exon 10 from the reverse primer. The first arrow indicates the C to A substitution in IVS10+1G>T, while the second arrow points to the A to G substitution in L461P