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Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive...

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7184572

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

About this item

Full title

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2020-04, Vol.10 (1), p.7056-7056, Article 7056

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Human
ACTG1
mutations are associated with high-frequency hearing loss, and patients with mutations in this gene are good candidates for electric acoustic stimulation. To better understand the genetic etiology of hearing loss cases, massively parallel DNA sequencing was performed on 7,048 unrelated Japanese hearing loss probands. Among 1,336 a...

Alternative Titles

Full title

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7184572

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7184572

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-020-63690-5

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