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...

Descripción completa

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

Internet

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

Ejemplares similares