Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome

Mutations of the transcriptional regulator PHF6 cause the X-linked intellectual disability disorder Börjeson-Forssman-Lehmann syndrome (BFLS), but the pathogenesis of BFLS remains poorly understood. Here, we report a mouse model of BFLS, generated using a CRISPR-Cas9 approach, in which cysteine 99 w...

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Detalles Bibliográficos
Autores principales: Cheng, Cheng, Deng, Pan-Yue, Ikeuchi, Yoshiho, Yuede, Carla, Li, Daofeng, Rensing, Nicholas, Huang, Ju, Baldridge, Dustin, Maloney, Susan E., Dougherty, Joseph D., Constantino, John, Jahani-Asl, Arezu, Wong, Michael, Wozniak, David F., Wang, Ting, Klyachko, Vitaly A., Bonni, Azad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261530/
https://www.ncbi.nlm.nih.gov/pubmed/30403997
http://dx.doi.org/10.1016/j.celrep.2018.10.043

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