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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
De novo somatic mutations in focal areas are well documented in diseases such as neoplasia but are rarely reported in malformation of the developing brain. Hemimegalencephaly (HME) is characterized by overgrowth of either one of the two cerebral hemispheres. The molecular etiology of HME remains a m...
Tallennettuna:
| Julkaisussa: | Nat Genet |
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| Päätekijät: | , , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2012
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4417942/ https://ncbi.nlm.nih.gov/pubmed/22729223 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2329 |
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