Novel and de novo mutations in pediatric refractory epilepsy

Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could help to understand the genetic diversity and underlying disease mechanisms in pediatric epilepsy. Here, we report sequencing results f...

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Detalles Bibliográficos
Autores principales: Liu, Jing, Tong, Lili, Song, Shuangshuang, Niu, Yue, Li, Jun, Wu, Xiu, Zhang, Jie, Zai, Celement C., Luo, Fang, Wu, Jian, Li, Haiyin, Wong, Albert H. C., Sun, Ruopeng, Liu, Fang, Li, Baomin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125990/
https://www.ncbi.nlm.nih.gov/pubmed/30185235
http://dx.doi.org/10.1186/s13041-018-0392-5

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