Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

SHANK3 is located on chromosome 22q13.3 and encodes a scaffold protein that is found in excitatory synapses opposite the pre-synaptic active zone. SHANK3 is a binding partner of neuroligins, some of whose genes contain mutations in a small subset of individuals with autism. In individuals with autis...

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Détails bibliographiques
Auteurs principaux: Sykes, Nuala H, Toma, Claudio, Wilson, Natalie, Volpi, Emanuela V, Sousa, Inês, Pagnamenta, Alistair T, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena, Bailey, Anthony J, Monaco, Anthony P
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2009
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2752466/
https://ncbi.nlm.nih.gov/pubmed/19384346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.47
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