Nalaganje...
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...
Shranjeno v:
| izdano v: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group UK
2017
|
| Teme: | |
| Online dostop: | 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 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|