Invention Grant
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
- Patent Title: Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)
- Patent Title (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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Application No.: US13487358Application Date: 2012-06-04
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Publication No.: US08785122B2Publication Date: 2014-07-22
- Inventor: Corey D. Braastad , Narasimhan Nagan , Jeffrey G. Jones , William K. Seltzer , Susan Allen , Sat Dev Batish , Hui Zhu
- Applicant: Corey D. Braastad , Narasimhan Nagan , Jeffrey G. Jones , William K. Seltzer , Susan Allen , Sat Dev Batish , Hui Zhu
- Applicant Address: US MA Worcester
- Assignee: Athena Diagnostics, Inc.
- Current Assignee: Athena Diagnostics, Inc.
- Current Assignee Address: US MA Worcester
- Agency: Foley & Lardner LLP
- Main IPC: C07H21/04
- IPC: C07H21/04 ; C12Q1/68
Abstract:
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.
Public/Granted literature
- US20120237934A1 METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2) Public/Granted day:2012-09-20
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