Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generatio...
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
About this item
Full title
Author / Creator
De Keulenaer, Sarah , Hellemans, Jan , Lefever, Steve , Renard, Jean-Pierre , De Schrijver, Joachim , Van de Voorde, Hendrik , Tabatabaiefar, Mohammad Amin , Van Nieuwerburgh, Filip , Flamez, Daisy , Pattyn, Filip , Scharlaken, Bieke , Deforce, Dieter , Bekaert, Sofie , Van Criekinge, Wim , Vandesompele, Jo , Van Camp, Guy and Coucke, Paul
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Hereditary hearing loss (HL) can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic defects in patients is currently labor intensive and expensive. While screening with Sanger sequencing for GJB2 mutations is common, this is not the case for the other known deafness genes (> 60)....
Alternative Titles
Full title
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
Authors, Artists and Contributors
Author / Creator
Hellemans, Jan
Lefever, Steve
Renard, Jean-Pierre
De Schrijver, Joachim
Van de Voorde, Hendrik
Tabatabaiefar, Mohammad Amin
Van Nieuwerburgh, Filip
Flamez, Daisy
Pattyn, Filip
Scharlaken, Bieke
Deforce, Dieter
Bekaert, Sofie
Van Criekinge, Wim
Vandesompele, Jo
Van Camp, Guy
Coucke, Paul
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_f777ca38f85842528e134f6bac9944dc
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f777ca38f85842528e134f6bac9944dc
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/1755-8794-5-17
