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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2015
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5034833/
https://ncbi.nlm.nih.gov/pubmed/26096185
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22819
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