| 发明名称 |
MUTATIONS OF THE PARKIN GENE, COMPOSITIONS, METHODS AND USES |
| 摘要 |
The invention concerns nucleic acids coding for mutated or truncated forms of the human parkin gene, or forms comprising multiplication of exons, and the corresponding proteins and antibodies. The invention also concerns methods and kits for identifying mutations of the parkin gene, and for studying compounds for therapeutic purposes. |
| 申请公布号 |
US2015074836(A1) |
申请公布日期 |
2015.03.12 |
| 申请号 |
US201414454026 |
申请日期 |
2014.08.07 |
| 申请人 |
Aventis Pharma S.A. ;Institut National de la Santé et de la Recherche Médicale |
发明人 |
Brice Alexis;Lucking Christophe;Denefle Patrice |
| 分类号 |
C12Q1/68;C07K16/40;C12N9/00 |
主分类号 |
C12Q1/68 |
| 代理机构 |
|
代理人 |
|
| 主权项 |
1. Nucleic acid encoding human parkin, characterized in that it contains one or more genetic alterations chosen from:
a) a deletion of one or more exons, in combination or otherwise, b) a multiplication of exons, c) a point mutation, d) a deletion of 1 or more contiguous base pairs, and e) an insertion of 1 or more contiguous base pairs. |
| 地址 |
Antony Cedex FR |
