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Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID
BACKGROUND: SHANK proteins are crucial for the formation and plasticity of excitatory synapses. Although mutations in all three SHANK genes are associated with autism spectrum disorder (ASD), SHANK3 appears to be the major ASD gene with a prevalence of approximately 0.5% for SHANK3 mutations in ASD,...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4455919/ https://www.ncbi.nlm.nih.gov/pubmed/26045941 http://dx.doi.org/10.1186/s13229-015-0020-5 |