ATP1A3 mosaicism in families with alternating hemiplegia of childhood

Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic and caused by de novo ATP1A3 pathogenic variants. In this study, the aim was to identify the origin of ATP1A3 pathogenic variants in...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Yang, Xiaoling, Yang, Xiaoxu, Chen, Jiaoyang, Li, Shupin, Zeng, Qi, Huang, August Y., Ye, Adam Y., Yu, Zhe, Wang, Sheng, Jiang, Yuwu, Wu, Xiru, Wu, Qixi, Wei, Liping, Zhang, Yuehua
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6850116/
https://ncbi.nlm.nih.gov/pubmed/30891744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13539
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