UNIVERSITE D'EVRY-VAL-D'ESSONNE;INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE);GENETHON
发明人:
RICHARD, ISABELLE,GICQUEL-ZOUIDA, EVELYNE
申请号：
CA3069045
公开号：
CA3069045A1
申请日:
2018.07.06
申请国别(地区):
CA
年份:
2019
代理人:
摘要：
The present invention concerns synthetic polynucleotides encoding a human fukutin- related protein (FKRP) wherein said polynucleotides contain at least a mutation avoiding supplementary transcript(s) generated from frameshift start codon(s). Said polynucleotides are useful, especially for treating a pathology linked to a FKRP deficiency or induced by a defect in a-dystroglycan (a-DG) glycosylation, such as LGMD2I.
