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

• 主要な著者: Xavier Gérard (著者), Isabelle Perrault (著者), Arnold Munnich (著者), Josseline Kaplan (著者), Jean-Michel Rozet (著者)
• フォーマット: 図書
• 出版事項: Elsevier, 2015-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...