Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies

Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we...

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Vydáno v:Sci Rep
Hlavní autoři: Lin, Zhongdong, Liu, Zhenwei, Li, Xiucui, Li, Feng, Hu, Ying, Chen, Bingyu, Wang, Zhen, Liu, Yong
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5428060/
https://ncbi.nlm.nih.gov/pubmed/28325891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-00208-6
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