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filingDate 1998-12-22-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2002-05-14-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_1db278fde2d39ec7bc0304d7db35596b
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_33693b3685f85ca909cb71c7efa749cf
publicationDate 2002-05-14-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-6387616-B1
titleOfInvention Torsin, torsin genes, and methods of use
abstract The present invention relates, in general, to dystonia. In particular, the present invention relates to nucleic acid molecules coding for the torsin protein; purified torsin proteins and polypeptides; recombinant nucleic acid molecules; cells containing the recombinant nucleic acid molecules; antibodies having binding affinity specifically to torsin proteins and polypeptides; hybridomas containing the antibodies; nucleic acid probes for the detection of nucleic acids encoding torsin proteins; a method of detecting nucleic acids encoding torsin proteins and polypeptides in a sample; kits containing nucleic acid probes or antibodies; bioassays using the nucleic acid sequence, proteins or antibodies of this invention to diagnose the presence or absence of a dystonia; to assess, or prognose a human afflicted with torsion dystonia; therapeutic uses; and methods of preventing torsion dystonia in a human. The invention also relates to methods of diagnosing the presence or absence of a dystonia disorder by determining the presence or absence of mutations within a dystonia gene.
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Total number of triples: 1153.