| 发明名称 |
SYSTEMIC CARNITINE DEFICIENCY GENE AND USES THEREOF |
| 摘要 |
The gene responsible for systemic carnitine deficiency was found to be the OCTN2 gene involved in the transportation of organic cations. This invention enables tests for this disease by detecting whether or not the OCTN2 gene has a mutation. Furthermore, systemic carnitine deficiency can be treated using the normal OCTN2 gene and its protein. |
| 申请公布号 |
US2012129184(A1) |
申请公布日期 |
2012.05.24 |
| 申请号 |
US201113197488 |
申请日期 |
2011.08.03 |
| 申请人 |
NEZU JUN-ICHI;TSUJI AKIRA;OSE ASUKA;CHUGAI SEIYAKU KABUSHIKI KAISHA |
发明人 |
NEZU JUN-ICHI;TSUJI AKIRA;OSE ASUKA |
| 分类号 |
C12Q1/68;A61K38/00;A61K48/00;C07K14/47;C07K14/705;C12Q1/02;G01N33/566 |
主分类号 |
C12Q1/68 |
| 代理机构 |
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代理人 |
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