Cargando…

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). The majority of RTT patients carry missense and nonsense mutations leading to a hypomorphic MECP2, while null mutations leadin...

Descripción completa

Detalles Bibliográficos
Autores principales: Cheung, Aaron Y.L., Horvath, Lindsay M., Grafodatskaya, Daria, Pasceri, Peter, Weksberg, Rosanna, Hotta, Akitsu, Carrel, Laura, Ellis, James
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090191/
https://www.ncbi.nlm.nih.gov/pubmed/21372149
http://dx.doi.org/10.1093/hmg/ddr093