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Prenatal treatment path for Angelman syndrome and other neurodevelopmental disorders
Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally-inherited UBE3A allele. These pathogenic mutations lead to loss of maternal UBE3A expression in neurons. Antisense oligonucleotides and gene therapies are in development that activate the in...
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| Udgivet i: | Autism Res |
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| Hovedforfatter: | |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7968581/ https://ncbi.nlm.nih.gov/pubmed/31490639 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/aur.2203 |
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