Journal article
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
- Abstract:
-
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 autism spectrum disorders (ASDs), several studies have found SHANK3 to be disrupted by deletions ranging from hundreds of kilobases to megabases, suggesting that 1% of individuals with ASDs may have the...
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- Publication status:
- Published
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- Publisher copy:
- 10.1038/ejhg.2009.47
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Authors
Bibliographic Details
- Journal:
- European journal of human genetics : EJHG
- Volume:
- 17
- Issue:
- 10
- Pages:
- 1347-1353
- Publication date:
- 2009-10-01
- DOI:
- EISSN:
-
1476-5438
- ISSN:
-
1018-4813
- Source identifiers:
-
34696
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:34696
- UUID:
-
uuid:3fc37a36-bea3-4f91-a552-872523b20f58
- Local pid:
- pubs:34696
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2009
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