Invention Grant
- Patent Title: Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)
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Application No.: US14329671Application Date: 2014-07-11
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Publication No.: US09611512B2Publication Date: 2017-04-04
- Inventor: Corey D. Braastad , Narasimhan Nagan , Jeffrey G. Jones , William K. Seltzer , Susan K. Allen , Sat Dev Batish , Hui Zhu
- Applicant: Athena Diagnostics, Inc.
- Applicant Address: US MA Marlborough
- Assignee: ATHENA DIAGNOSTICS, INC.
- Current Assignee: ATHENA DIAGNOSTICS, INC.
- Current Assignee Address: US MA Marlborough
- 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
- US20140323318A1 METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2) Public/Granted day:2014-10-30
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