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Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients

BACKGROUND: Mutations in the cyclin-dependent kinase-like 5 (CDKL5) (NM_003159.2) gene have been associated with early-onset epileptic encephalopathies or Hanefeld variants of RTT(Rett syndrome). In order to clarify the CDKL5 genotype-phenotype correlations in Chinese patients, CDKL5 mutational scre...

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Detalles Bibliográficos
Autores principales:	Zhao, Ying, Zhang, Xiaoying, Bao, Xinhua, Zhang, Qingping, Zhang, Jingjing, Cao, Guangna, Zhang, Jie, Li, Jiarui, Wei, Liping, Pan, Hong, Wu, Xiru
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938974/ https://www.ncbi.nlm.nih.gov/pubmed/24564546 http://dx.doi.org/10.1186/1471-2350-15-24

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