Abstract:
:A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
State MWdoi
10.1038/ng0610-478subject
Has Abstractpub_date
2010-06-01 00:00:00pages
478-9issue
6eissn
1061-4036issn
1546-1718pii
ng0610-478journal_volume
42pub_type
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