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Sequence of exon 8 of the OCTN2 gene in patient 2996. Genomic DNA was amplified by PCR and sequenced. Note the presence of double sequence at and after the codon for G435 in the patient and the mother. The right side of the figure shows the normal sequence and that of a clone of exon 8 from the proband containing the one bp deletion. The predicted neo-amino acid sequence is shown below the sequencing chromatograms.
