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Figure 3 | BMC Medical Genetics

Figure 3

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

Figure 3

Examples of direct sequence analysis of the SLC26A4 gene. Representative results of H723R and the IVS15 + 5G > A mutation analysis are shown. Genomic sequences of the SLC26A4 gene in normal individuals (A), (B). A compound heterozygous mutation for IVS15 + 5G > A/H723R (C), (D). A homozygous mutation for H723R (E). A homozygous substitution of IVS15 + 5G > A (F). The arrows indicate the variant nucleotide.

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BMC Medical Genetics

ISSN: 1471-2350

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