AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

• Hoofdauteurs: Erik de Vrieze (Auteur), Jorge Cañas Martín (Auteur), Jolien Peijnenborg (Auteur), Aniek Martens (Auteur), Jaap Oostrik (Auteur), Simone van den Heuvel (Auteur), Kornelia Neveling (Auteur), Ronald Pennings (Auteur), Hannie Kremer (Auteur), Erwin van Wijk (Auteur)
• Formaat: Boek
• Gepubliceerd in: Elsevier, 2021-06-01T00:00:00Z.
• Onderwerpen: article
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The c.151C>T founder mutation in COCH is a frequent cause of late-onset, dominantly inherited hearing impairment and vestibular dysfunction (DFNA9) in the Dutch/Belgian population. The initial clinical symptoms only manifest between the 3rd and 5th decade of life, which leaves ample time for ther...