Fig. 3

a). RT-PCR shows exon 8 skipping which produces a sharp skipped product of 300 bp and a week normal PCR band of 526 bp in the proband but in his father, a 526 bp with sharp PCR band and 300 bp with weak PCR band is detected. b). Sequencing data of skipped product (300 bp) from proband. Data was blasted to reference FKBP10 transcript and confirmed the exon 8 skipping. (*) symbol: Cons: conserved nucleotide in the blast. (−) symbol: deleted nucleotide