Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

• Main Authors: Xavier Gérard (Author), Isabelle Perrault (Author), Arnold Munnich (Author), Josseline Kaplan (Author), Jean-Michel Rozet (Author)
• Format: Book
• Published: Elsevier, 2015-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Leber congenital amaurosis is a severe hereditary retinal dystrophy responsible for neonatal blindness. The most common disease-causing mutation (c.2991+1655A>G; 10-15%) creates a strong splice donor site that leads to insertion of a cryptic exon encoding a premature stop codon. Recently, we repo...