发明授权
US08785122B2 Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)
失效
检测与共济失调 - 眼睛不适2（AOA2）相关突变的方法
- 专利标题： Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)
- 专利标题（中）： 检测与共济失调 - 眼睛不适2（AOA2）相关突变的方法
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申请号： US13487358申请日： 2012-06-04
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公开(公告)号： US08785122B2公开(公告)日： 2014-07-22
- 发明人: Corey D. Braastad , Narasimhan Nagan , Jeffrey G. Jones , William K. Seltzer , Susan Allen , Sat Dev Batish , Hui Zhu
- 申请人： Corey D. Braastad , Narasimhan Nagan , Jeffrey G. Jones , William K. Seltzer , Susan Allen , Sat Dev Batish , Hui Zhu
- 申请人地址： US MA Worcester
- 专利权人： Athena Diagnostics, Inc.
- 当前专利权人： Athena Diagnostics, Inc.
- 当前专利权人地址： US MA Worcester
- 代理机构： Foley & Lardner LLP
- 主分类号： C07H21/04
- IPC分类号： C07H21/04 ; C12Q1/68
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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