Contribution of SHANK3 Mutations to Autism Spectrum Disorder

Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this gen...

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Bibliographic Details
Main Authors: Moessner, Rainald , Marshall, Christian R. , Sutcliffe, James S. , Skaug, Jennifer , Pinto, Dalila , Vincent, John , Zwaigenbaum, Lonnie , Fernandez, Bridget , Roberts, Wendy , Szatmari, Peter , Scherer, Stephen W. 
Format: Artigo
Language:Inglês
Published: American Society of Human Genetics 2007
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2276348/
https://ncbi.nlm.nih.gov/pubmed/17999366
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