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The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-induc...

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-induc...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3179363

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

About this item

Full title

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

Publisher

Cham: Springer International Publishing

Journal title

European journal of human genetics : EJHG, 2011-09, Vol.19 (9), p.965-973

Language

English

Formats

Publication information

Publisher

Cham: Springer International Publishing

More information

Scope and Contents

Contents

DFNA5
was first identified as a gene causing autosomal dominant hearing loss (HL). Different mutations have been found, all exerting a highly specific gain-of-function effect, in which skipping of exon 8 causes the HL. Later reports revealed the involvement of the gene in different types of cancer. Epigenetic silencing of
DFNA5
in a large...

Alternative Titles

Full title

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3179363

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3179363

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2011.63