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a Partial genomic sequence of the COH1 gene in the proband carrying the heterozygous mutation c.8697–9A>G (R). b RT-PCR analysis of COH1 exons 47–48 in the proband. Upper cases denote the coding region and lower cases the intron region. c Partial genomic sequence of the COH1 gene in the proband carrying the heterozygous mutation c.10156dupA.
