发明名称 |
MUTATION ASSOCIATED WITH EPILEPSY |
摘要 |
The present invention concerns an isolated mammalian DNA molecule encoding a mutant ³-aminobutyric acid type A (GABA A ) receptor subunit, wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled GABA A receptor, or an otherwise functional fragment or homologue thereof. The invention also concerns mutant ³-aminobutyric acid type A (GABA A ) receptor subunits and antibodies against the same. Furthermore the invention concerns the use of such DNA molecules, subunits and antibodies in diagnostic and therapeutic applications. |
申请公布号 |
CA2411756(A1) |
申请公布日期 |
2001.12.27 |
申请号 |
CA20012411756 |
申请日期 |
2001.06.20 |
申请人 |
BIONOMICS LIMITED |
发明人 |
HARKIN, LOUISE ANNE;BERKOVIC, SAMUEL FRANK;DIBBENS, LEANNE MICHELLE;MULLEY, JOHN CHARLES;WALLACE, ROBYN HEATHER |
分类号 |
A01K67/027;A61K31/5513;A61K38/00;A61K39/395;A61K45/00;A61K48/00;A61P3/04;A61P25/06;A61P25/08;A61P25/18;A61P25/20;A61P25/22;A61P25/24;A61P25/28;A61P43/00;C07K14/705;C07K16/28;C12N1/15;C12N1/19;C12N1/21;C12N5/10;C12N15/09;C12N15/12;C12P21/02;C12P21/08;C12Q1/02;C12Q1/44;C12Q1/68;G01N33/15;G01N33/48;G01N33/50;G01N37/00;(IPC1-7):C12N15/12 |
主分类号 |
A01K67/027 |
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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