Figure 1.

Electrophoretogram of the (A) complementary DNA (cDNA) and (B) genomic DNA (gDNA) from novel splice variant c.7458-8T>G, resulting in creation of a new 3′ splice site that leads to a 7-nt insertion of c.7458-7_7458-1. Below, cDNA and gDNA sequences of wild type (wt) and splice variant are presented. In the cDNA sequences, the inserted nucleotides are italicized. In the gDNA sequences, the nucleotide substitution is underlined. Small letters indicate the intronic sequence.