Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)
US9611512B2 · kind B2 · utility
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Key dates
| Filing date | Jul 11, 2014 |
| Grant date | Apr 4, 2017 |
| Priority date | — |
| Expiry date | Oct 16, 2034 |
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.