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

• मुख्य लेखकों: Xavier Gérard (लेखक), Isabelle Perrault (लेखक), Arnold Munnich (लेखक), Josseline Kaplan (लेखक), Jean-Michel Rozet (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2015-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...