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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Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2020
Gaiak:
Article
Sarrera elektronikoa: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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