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• W2049011837 abstract "Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. The underlying gene has been localized to a 500-kilobase segment of the Xq21 band. Here, it is reported that a candidate gene for this disorder, Brain 4 (POU3F4), which encodes a transcription factor with a POU domain, maps to the same interval. In five unrelated patients with DFN3 but not in 50 normal controls, small mutations were found that result in truncation of the predicted protein or in nonconservative amino acid substitutions. These findings indicate that POU3F4 mutations are a molecular cause of DFN3." @default.
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• W2049011837 date "1995-02-03" @default.
• W2049011837 modified "2023-10-14" @default.
• W2049011837 title "Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene <i>POU3F4</i>" @default.
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• W2049011837 doi "https://doi.org/10.1126/science.7839145" @default.
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