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POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based...

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1899788963

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

About this item

Full title

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

Publisher

United States: Public Library of Science

Journal title

PloS one, 2017-05, Vol.12 (5), p.e0177636-e0177636

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of J...

Alternative Titles

Full title

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1899788963

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1899788963

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0177636

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