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Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology
Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in individuals with autism spectrum disorder (ASD) and intellectual disability. However, the cellular and physiological consequences of these mutations in neurons remain unknown. We have analyzed the functional impac...
Autores principales: | Berkel, Simone, Tang, Wannan, Treviño, Mario, Vogt, Miriam, Obenhaus, Horst Andreas, Gass, Peter, Scherer, Stephen Wayne, Sprengel, Rolf, Schratt, Gerhard, Rappold, Gudrun Anna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276277/ https://www.ncbi.nlm.nih.gov/pubmed/21994763 http://dx.doi.org/10.1093/hmg/ddr470 |
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