| 发明名称 |
DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY DETECTION OF A MUTATION IN THE KIAA1840 GENE OR PROTEIN |
| 摘要 |
An ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP) in a subject is provided which comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein that mutation is indicative of an hereditary spastic paraplegias (HSP). |
| 申请公布号 |
US2016348172(A9) |
申请公布日期 |
2016.12.01 |
| 申请号 |
US201414206840 |
申请日期 |
2014.03.12 |
| 申请人 |
Institut National De La Sante Et De La Recherche Medicale ( INSERM) |
发明人 |
AZZEDINE Hamid;BRICE Alexis;STEVANIN Giovanni;SANTORELLI Filippo;DENORA Paola |
| 分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
| 代理机构 |
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代理人 |
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| 主权项 |
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| 地址 |
Paris FR |
