| 发明名称 |
METHODS FOR THE TREATMENT OF LEBER CONGENITAL AMAUROSIS |
| 摘要 |
The present invention relates to a method for treating a Leber congenital amaurosis in a patient harbouring the mutation c.2991+1655 A>G in the CEP290 gene, comprising the step of administering to said patient at least one antisense oligonucleotide complementary to nucleic acid sequence that is necessary for preventing splicing of the cryptic exon inserted into the mutant c.2291+1655 A>G CEP290 mRNA |
| 申请公布号 |
US2014179767(A1) |
申请公布日期 |
2014.06.26 |
| 申请号 |
US201214125063 |
申请日期 |
2012.06.08 |
| 申请人 |
Rozet Jean-Michel;Kichler Antoine;Perrault Isabelle;Kaplan Josseline;Gerard Xavier;Scherman Daniel |
发明人 |
Rozet Jean-Michel;Kichler Antoine;Perrault Isabelle;Kaplan Josseline;Gerard Xavier;Scherman Daniel |
| 分类号 |
C12N15/113 |
主分类号 |
C12N15/113 |
| 代理机构 |
|
代理人 |
|
| 主权项 |
1. A method for restoring the function of CEP290 in a cell carrying the mutation c.2991+1655 A>G present in the CEP290 gene wherein said method comprises the step of preventing splicing of the cryptic exon inserted into the mutant c.2291+1655 A>G CEP290 mRNA. |
| 地址 |
Paris FR |
