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Article

A Novel Nonsense Mutation ofPOU4F3Gene Causes Autosomal Dominant Hearing Loss

1 Jan 2016

Abstract excerpt

POU4F3gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in cochlea and vestibular system. Several mutations ofPOU4F3have been reported to cause autosomal dominant nonsyndromic hearing loss in recent years. In this study, we describe a pathogenic nonsense mutation located inPOU4F3in a four-generation Chinese family. Target region capture sequencing...

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Identifiers

PMID: 27999687
DOI: 10.1155/2016/1512831

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