Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

Genomic mosaicism in parental gametes and peripheral tissues is an important consideration for genetic counseling. We studied a Chinese cohort affected by a severe epileptic disorder, Dravet syndrome (DS). There were 56 fathers who donated semen and 15 parents who donated multiple peripheral tissue...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Yang, Xiaoxu, Liu, Aijie, Xu, Xiaojing, Yang, Xiaoling, Zeng, Qi, Ye, Adam Yongxin, Yu, Zhe, Wang, Sheng, Huang, August Yue, Wu, Xiru, Wu, Qixi, Wei, Liping, Zhang, Yuehua
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5688122/
https://ncbi.nlm.nih.gov/pubmed/29142202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-15814-7
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