Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome

• Main Authors: Belén García-Bohórquez (Author), Pilar Barberán-Martínez (Author), Elena Aller (Author), Teresa Jaijo (Author), Pablo Mínguez (Author), Cristina Rodilla (Author), Lidia Fernández-Caballero (Author), Fiona Blanco-Kelly (Author), Carmen Ayuso (Author), Alba Sanchis-Juan (Author), Sanne Broekman (Author), Erik de Vrieze (Author), Erwin van Wijk (Author), Gema García-García (Author), José M. Millán (Author)
• Format: Book
• Published: Elsevier, 2024-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Exploring non-coding regions is increasingly gaining importance in the diagnosis of inherited retinal dystrophies. Deep-intronic variants causing aberrant splicing have been identified, prompting the development of antisense oligonucleotides (ASOs) to modulate splicing. We performed a screening of f...