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

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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Bibliographic Details
Main Authors: Sykes, N, Toma, C, Wilson, N, Volpi, E, Sousa, I, Pagnamenta, A, Tancredi, R, Battaglia, A, Maestrini, E, Bailey, A, Monaco, A
Format: Journal article
Language:English
Published: 2009

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