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

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...

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Detalles Bibliográficos
Autores principales: de Vrieze, Erik, Cañas Martín, Jorge, Peijnenborg, Jolien, Martens, Aniek, Oostrik, Jaap, van den Heuvel, Simone, Neveling, Kornelia, Pennings, Ronald, Kremer, Hannie, van Wijk, Erwin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7985667/
https://www.ncbi.nlm.nih.gov/pubmed/33815940
http://dx.doi.org/10.1016/j.omtn.2021.02.033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7985667/
https://www.ncbi.nlm.nih.gov/pubmed/33815940
http://dx.doi.org/10.1016/j.omtn.2021.02.033

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