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Autism-Associated SHANK3 Haploinsufficiency Causes I(h)-Channelopathy in Human Neurons
Heterozygous SHANK3 mutations are associated with idiopathic autism and Phelan-McDermid syndrome. SHANK3 is a ubiquitously expressed scaffolding protein that is enriched in postsynaptic excitatory synapses. Here we used engineered conditional mutations in human neurons to show that heterozygous and...
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| Udgivet i: | Science |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4901875/ https://ncbi.nlm.nih.gov/pubmed/26966193 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aaf2669 |
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