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Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy
Brain somatic mutations confer genomic diversity in the human brain and cause neurodevelopmental disorders. Recently, brain somatic activating mutations in MTOR have been identified as a major etiology of intractable epilepsy in patients with cortical malformations. However, the molecular genetic me...
Uloženo v:
| Vydáno v: | J Clin Invest |
|---|---|
| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Clinical Investigation
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6763223/ https://ncbi.nlm.nih.gov/pubmed/31483294 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI127032 |
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