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Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy

Mutations in the CDKL5 gene lead to an incurable rare neurological condition characterized by the onset of seizures in the first weeks of life and severe intellectual disability. Replacement gene or protein therapies could represent intriguing options, however, their application may be inhibited by...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Int J Mol Sci
Main Authors: Balestra, Dario, Giorgio, Domenico, Bizzotto, Matteo, Fazzari, Maria, Ben Zeev, Bruria, Pinotti, Mirko, Landsberger, Nicoletta, Frasca, Angelisa
פורמט: Artigo
שפה:Inglês
יצא לאור: MDPI 2019
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6747535/
https://ncbi.nlm.nih.gov/pubmed/31450582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20174130
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