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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443074/
https://www.ncbi.nlm.nih.gov/pubmed/22607986
http://dx.doi.org/10.1186/1755-8794-5-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443074/
https://www.ncbi.nlm.nih.gov/pubmed/22607986
http://dx.doi.org/10.1186/1755-8794-5-17

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