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Electropherograms displaying a novel PRPF31 mutation, p.Lys120GlufsX122. Genomic DNA sequences (reverse primer) of a part of PRPF31 from a patient with the p.Lys120GlufsX122 mutation (top) and from a normal subject (bottom). The rectangular box shows the position of a heterozygous deletion of two nucleotides at codon 120 (c. c.358_359 del AA, but the sequence shows the reverse sequence boxed as TT).
