发明名称 |
Novel mutation |
摘要 |
An isolated nucleic acid molecule encoding a mutant mammalian beta-1 subunit of a voltage-gated sodium channel wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled sodium channel so as to produce an epilepsy phenotype, with the proviso that said mutation event is not one which results in a C121W substitution in the encoded polypeptide.
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申请公布号 |
US2004191791(A1) |
申请公布日期 |
2004.09.30 |
申请号 |
US20040477272 |
申请日期 |
2004.05.05 |
申请人 |
WALLACE ROBYN HEATHER;MULLEY JOHN CHARLES;SCHEFFER INGRID EILEEN |
发明人 |
WALLACE ROBYN HEATHER;MULLEY JOHN CHARLES;SCHEFFER INGRID EILEEN |
分类号 |
A01K67/027;A61K31/711;A61K38/00;A61K45/00;A61K48/00;A61P25/08;C07K14/47;C07K14/705;C07K16/18;C12N1/15;C12N1/19;C12N1/21;C12N5/10;C12N15/09;C12P21/02;C12P21/08;C12Q1/68;G01N33/15;G01N33/50;(IPC1-7):C12Q1/68;C07H21/04 |
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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