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...

Ausführliche Beschreibung

Bibliographische Detailangaben

Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Biology and Life Sciences Deafness Genetic diagnostics IMPAIRMENT MUTATIONS Next generation sequencing PCR based enrichment
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!