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A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels
Loss-of-function mutations in MECP2 cause Rett syndrome (RTT), a severe neurological disorder that mainly affects girls. Mutations in MECP2 do occur in males occasionally and typically cause severe encephalopathy and premature lethality. Recently, we identified a missense mutation (c.353G>A, p.Gl...
Autores principales: | Zhou, Jian, Cattoglio, Claudia, Shao, Yingyao, Tirumala, Harini P., Vetralla, Carlo, Bajikar, Sameer S., Li, Yan, Chen, Hu, Wang, Qi, Wu, Zhenyu, Tang, Bing, Zahabiyon, Mahla, Bajic, Aleksandar, Meng, Xiangling, Ferrie, Jack J., LaGrone, Anel, Zhang, Ping, Kim, Jean J., Tang, Jianrong, Liu, Zhandong, Darzacq, Xavier, Heintz, Nathaniel, Tjian, Robert, Zoghbi, Huda Y. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10691473/ https://www.ncbi.nlm.nih.gov/pubmed/37890975 http://dx.doi.org/10.1101/gad.350733.123 |
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