Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo” SCN1A Mutations in Children with Dravet Syndrome

The majority of children with Dravet syndrome (DS) are caused by de novo SCN1A mutations. To investigate the origin of the mutations, we developed and applied a new method that combined deep amplicon resequencing with a Bayesian model to detect and quantify allelic fractions with improved sensitivit...

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Detalles Bibliográficos
Autores principales: Xu, Xiaojing, Yang, Xiaoxu, Wu, Qixi, Liu, Aijie, Yang, Xiaoling, Ye, Adam Yongxin, Huang, August Yue, Li, Jiarui, Wang, Meng, Yu, Zhe, Wang, Sheng, Zhang, Zhichao, Wu, Xiru, Wei, Liping, Zhang, Yuehua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034833/
https://www.ncbi.nlm.nih.gov/pubmed/26096185
http://dx.doi.org/10.1002/humu.22819

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034833/
https://www.ncbi.nlm.nih.gov/pubmed/26096185
http://dx.doi.org/10.1002/humu.22819

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