SYNGAP1 DYSFUNCTIONS AND USES THEREOF IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS FOR MENTAL RETARDATION
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United States of America Patent
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Issued Date -
Sep 22, 2011
app pub date -
Nov 9, 2009
filing date -
Nov 7, 2008
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Abandoned
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Abstract
The invention identifies Syngap1 dysfunctions as causative of mental retardation. Described are methods of detecting mental retardation and methods of detecting non-syndromic mental retardation (NSMR) in a human subject. Particular methods comprise sequencing a human subject's genomic DNA for comparison with a control sequence from an unaffected individual. Also described are probes, kits, antibodies and isolated mutated Syngap1 proteins.
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