Institut National de la Santé et de la Recherche Médicale (INSERM);Centre National de la Recherche Scientifique (CNRS);Université Paris Descartes;ENSCP Chimie Paris Tech Ecole Nationale Supér;GENETHON
发明人:
ROZET, Jean-Michel,KICHLER, Antoine,PERRAULT, Isabelle,KAPLAN, Josseline,GERARD, Xavier,SCHERMAN, Daniel,MUNNICH, Arnold
申请号：
DK12729421
公开号：
DK2718437T3
申请日:
2012.06.08
申请国别(地区):
DK
年份:
2018
代理人:
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
