| 发明名称 |
Diagnosis of Hereditary Spastic Paraplegias (HSP) by Identification of a Mutation in the ZFVYE26 Gene or Protein |
| 摘要 |
The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).
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| 申请公布号 |
US2013137096(A1) |
申请公布日期 |
2013.05.30 |
| 申请号 |
US201213664868 |
申请日期 |
2012.10.31 |
| 申请人 |
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE;INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICAL (INSERM) |
发明人 |
STEVANIN GIOVANNI;HANEIN SYLVAIN;BOUKHRIS AMIR;GOIZET CYRIL;MARTIN ELODIE;BRICE ALEXIS |
| 分类号 |
C12Q1/68;G01N33/68 |
主分类号 |
C12Q1/68 |
| 代理机构 |
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