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filingDate 2003-05-12-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2008-02-12-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9408869156187c9dda34c80cabe1b62f
publicationDate 2008-02-12-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-7329487-B2
titleOfInvention Large scale genotyping of diseases and a diagnostic test for spinocerebellar ataxia type 6
abstract The present invention provides a method of screening individuals at risk for developing diseases caused by trinucleotide repeat sequence instability. Specifically, the present invention is drawn to screening individuals at risk for developing autosomal dominant spinocerebellar ataxia type 6 by determining the length of a CAG trinucleotide repeat in the α 1A calcium channel gene of the individual. In addition, there is provided a method of identifying genes which are disease-causing due to trinucleotide repeat sequence instability by large scale genotyping.
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