A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome

BACKGROUND: Mutations in Methyl-CpG binding protein 2 (MECP2) have been identified as the disease-causing mutations in Rett Syndrome (RTT). However, no mutation in the AT-hook 1 domain of MECP2 has been reported in RTT yet. The function of AT-hook 1 domain of MECP2 has not been described either. MET...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhou, Xiao, Liao, Yuangao, Xu, Miaojing, Ji, Zhong, Xu, Yunqi, Zhou, Liang, Wei, Xiaoming, Hu, Peiqian, Han, Peng, Yang, Fanghan, Pan, Suyue, Hu, Yafang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669878/
https://www.ncbi.nlm.nih.gov/pubmed/29137252
http://dx.doi.org/10.18632/oncotarget.18955

Ejemplares similares

Ejemplares similares