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

• मुख्य लेखकों: Erik de Vrieze (लेखक), Jorge Cañas Martín (लेखक), Jolien Peijnenborg (लेखक), Aniek Martens (लेखक), Jaap Oostrik (लेखक), Simone van den Heuvel (लेखक), Kornelia Neveling (लेखक), Ronald Pennings (लेखक), Hannie Kremer (लेखक), Erwin van Wijk (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2021-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...