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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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2012
Ämnen:
Research Article
Länkar: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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