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Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
BACKGROUND: Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD). We set out to screen for MECP2 mutations in patients of ASD...
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| Pubblicato in: | Mol Autism |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5543534/ https://ncbi.nlm.nih.gov/pubmed/28785396 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-017-0157-5 |
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