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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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. 
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Human Genetics 2007
Soggetti:
Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2276348/
https://ncbi.nlm.nih.gov/pubmed/17999366
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi