Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)
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Apr 4, 2017
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Jul 11, 2014
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Jan 27, 2006
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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.
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