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Figure 4 | BMC Medical Genetics

Figure 4

From: Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

Figure 4

Expression of the SLC26A4 gene in patients with PS or EVA. The expected RT-nested PCR amplification product of SLC26A4 was 154 base pairs (bp) in length. Agarose gel electrophoresis shows the 154 bp band for the control subject (A) and the patient with IVS15 + 5G > A/H723R compound heterozygous mutation (B); however, there was no band for the patient with IVS15 + 5G > A homozygous substitution (C).

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