Fig. 1. Identification of new splice products after inhibition of NMD in primary fibroblasts from a healthy control.

a Flanking exon RT-PCR of GAA exons 2–19 in primary fibroblasts from a healthy control. Black asterisks indicate unidentified aberrant splice products. b Same as in a, but after treatment with cycloheximide. c Cartoons depicting products identified after sequencing of TOPO clones generated from the PCR samples of exon 6, 7, 12 and 13. Product labels refer to the numbers shown in b. Red lines indicate aberrant splicing events. Red asterisks indicate products that undergo NMD. Primer targets are indicated.