METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2)

METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2)

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 carri...

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Bibliographische Detailangaben
Hauptverfasser: Jones, Jeffrey G, Nagan, Narasimhan, Braastad, Corey D, Zhu, Hui, Allen, Susan K, Batish, Sat Dev, Seltzer, William K
Format: Patent
Sprache:eng
Schlagworte:
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BIOCHEMISTRY
CHEMISTRY
COMPOSITIONS OR TEST PAPERS THEREFOR
CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES
ENZYMOLOGY
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS
METALLURGY
MICROBIOLOGY
MUTATION OR GENETIC ENGINEERING
PROCESSES OF PREPARING SUCH COMPOSITIONS
SPIRITS
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Zusammenfassung: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.