Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)
US8785122B2 · kind B2 · utility
2Cited by
9References
17Claims
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Key dates
| Filing date | Jun 4, 2012 |
| Grant date | Jul 22, 2014 |
| Priority date | — |
| Expiry date | Jul 23, 2032 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/158
- WIPO fieldBiotechnology
- WIPO sectorChemistry
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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.