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filingDate 2001-09-14-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6d2dc8d4fff955f4e49e55dff3008fc0
publicationDate 2003-03-25-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber JP-2003088375-A
titleOfInvention Diagnosis and treatment of spinocerebellar degeneration (EAOH) based on aprataxin gene
abstract (57) [PROBLEMS] To provide an aprataxin gene associated with early-onset spinocerebellar degeneration (EAOH) associated with eye movement ataxia and hypoalbuminemia, a protein encoded by the gene, and a mutation involved in the onset of EAOH. Provision of use of the aprataxin gene and the protein encoded by the mutant gene for disease treatment and diagnosis. Human aprataxin protein or gene for the treatment of early-onset spinocerebellar degeneration (EAOH) with eye movement ataxia and hypoalbuminemia and human aprataxin gene DNA for detection of EAOH Or a fragment of it.
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http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCQ8PTD3
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http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID414016120
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http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID415967886
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http://rdf.ncbi.nlm.nih.gov/pubchem/substance/SID426383397
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Total number of triples: 464.