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Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome

Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). More than 35% of affected individuals have nonsense mutations in MECP2. For these individuals, nonsense suppression has been suggested as a possible therapeutic approach. To as...

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Detaylı Bibliyografya
Yayımlandı:Hum Mol Genet
Asıl Yazarlar: Merritt, Jonathan K, Collins, Bridget E, Erickson, Kirsty R, Dong, Hongwei, Neul, Jeffrey L
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7471501/
https://ncbi.nlm.nih.gov/pubmed/32469049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa102
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