Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

Rett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 35% of all cases of RTT. A strategy to overcome dis...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Pitcher, Meagan R., Herrera, José A., Buffington, Shelly A., Kochukov, Mikhail Y., Merritt, Jonathan K., Fisher, Amanda R., Schanen, N. Carolyn, Costa-Mattioli, Mauro, Neul, Jeffrey L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4383870/
https://ncbi.nlm.nih.gov/pubmed/25634563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv030
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