High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

Rett syndrome is a progressive neurodevelopmental disorder which affects almost exclusively girls, caused by variants in MECP2 gene. Effective therapies for this devastating disorder are not yet available and the need for tight regulation of MECP2 expression for brain to properly function makes gene...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Croci, Susanna, Carriero, Miriam Lucia, Capitani, Katia, Daga, Sergio, Donati, Francesco, Frullanti, Elisa, Lamacchia, Vittoria, Tita, Rossella, Giliberti, Annarita, Valentino, Floriana, Benetti, Elisa, Ciabattini, Annalisa, Furini, Simone, Lo Rizzo, Caterina, Pinto, Anna Maria, Conticello, Silvestro Giovanni, Renieri, Alessandra, Meloni, Ilaria
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7609331/
https://ncbi.nlm.nih.gov/pubmed/32332872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0624-x
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