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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752466/
https://www.ncbi.nlm.nih.gov/pubmed/19384346
http://dx.doi.org/10.1038/ejhg.2009.47

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752466/
https://www.ncbi.nlm.nih.gov/pubmed/19384346
http://dx.doi.org/10.1038/ejhg.2009.47

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