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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Detalhes bibliográficos
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. 
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2276348/
https://ncbi.nlm.nih.gov/pubmed/17999366
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