Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

BACKGROUND: 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, th...

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Detalhes bibliográficos
Main Authors: 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, Coucke, Paul
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3443074/
https://ncbi.nlm.nih.gov/pubmed/22607986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8794-5-17
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