发明名称 |
CLONAGE, EXPRESSION ET CARACTERISATION DU GENE SPG4 RESPONSABLE DE LA FORME LA PLUS FREQUENTE DE PARAPLEGIE SPASTIQUE AUTOSOMIQUE DOMINANTE |
摘要 |
The invention concerns the identification and characterisation of the SPG4 gene coding for spastin, and some mutations thereof responsible for the most frequent form of autosomal dominant familial spastic paraplegia, the cloning and the characterisation of its cDNA and the corresponding polypeptides. The invention also concerns vectors, transformed cells and transgenic animals as well as diagnostic methods and kits, and methods for selecting a chemical or biological compound capable of directly or indirectly interacting with said polypeptide. |
申请公布号 |
FR2798138(A1) |
申请公布日期 |
2001.03.09 |
申请号 |
FR19990011097 |
申请日期 |
1999.09.03 |
申请人 |
CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE CNRS |
发明人 |
WEISSENBACH JEAN;HAZAN JAMILE |
分类号 |
A01K67/027;C07K14/47;C07K16/18;C12N1/15;C12N1/19;C12N1/21;C12N5/10;C12N15/09;C12N15/12;C12P21/02;C12P21/08;C12Q1/02;C12Q1/68;G01N33/15;G01N33/50;G01N33/53 |
主分类号 |
A01K67/027 |
代理机构 |
|
代理人 |
|
主权项 |
|
地址 |
|