| 发明名称 |
Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2) |
| 摘要 |
Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.
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| 申请公布号 |
US2007190555(A1) |
申请公布日期 |
2007.08.16 |
| 申请号 |
US20070656350 |
申请日期 |
2007.01.22 |
| 申请人 |
BRAASTAD COREY D;NAGAN NARASIMHAN;JONES JEFFREY G;SELTZER WILLIAM K;ALLEN SUSAN;BATISH SAT D;ZHU HUI |
发明人 |
BRAASTAD COREY D.;NAGAN NARASIMHAN;JONES JEFFREY G.;SELTZER WILLIAM K.;ALLEN SUSAN;BATISH SAT D.;ZHU HUI |
| 分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
| 代理机构 |
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