Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late‐Onset Progressive Nonsynd...
Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late‐Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families
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Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publisher
United States: John Wiley & Sons, Inc
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ABSTRACT
Background
POU4F3 mutations cause DFNA15, an autosomal dominant nonsyndromic hearing loss. POU4F3 encodes a transcription factor crucial for inner ear hair cell development and maintenance.
Objective
To identify and functionally characterize novel POU4F3 mutations in two Chinese families with late‐onset progressive hearing loss...
Alternative Titles
Full title
Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late‐Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families
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Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12076007
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12076007
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.70100
