发明名称 |
SYNGAP1 DYSFUNCTIONS AND USES THEREOF IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS FOR MENTAL RETARDATION |
摘要 |
The invention identifies Syngap1 dysfunctions as causative of mental retardation. Described are methods of detecting mental retarda-tion and methods of detecting non- syndromic mental retardation (NSMR) in a human subject. Particular methods comprise sequencing a human sub-ject's genomic DNA for comparison with a control sequence from an unaf-fected individual. Also described are probes, kits, antibodies and isolated mutated Syngap1 proteins.
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申请公布号 |
CA2735129(C) |
申请公布日期 |
2012.06.26 |
申请号 |
CA20092735129 |
申请日期 |
2009.11.09 |
申请人 |
CENTRE HOSPITALIER UNIVERSITAIRE SAINTE-JUSTINE;UNIVERSITE DE MONTREAL;CENTRE HOSPITALIER DE L'UNIVERSITE DE MONTREAL |
发明人 |
MICHAUD, JACQUES;HAMDAN, FADI;ROULEAU , GUY;GAUTHIER, JULIE |
分类号 |
C07K14/47;C07H21/00;C07K16/18;C07K17/00;C12N15/12;C12Q1/00;C12Q1/68;G01N33/48;G01N33/543 |
主分类号 |
C07K14/47 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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