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classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
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filingDate 2010-05-14-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_fd6bedfaf816b45b11c00ecc9c13b8eb
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publicationDate 2010-09-30-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber JP-2010213716-A
titleOfInvention Detection of gene mutations related to thrombotic diseases by gene analysis of von Willebrand factor cleaving enzyme
abstract [PROBLEMS] To provide a means for enabling early diagnosis and morbidity risk determination of thrombotic diseases (thrombotic thrombocytopenic purpura (TTP), coronary artery disease (CAD), stroke, etc.). The von Willebrand factor cleaving enzyme gene, 3066539A (indicated by the position in the genome base sequence of the gene described in GenBank accession number NT — 03514.3 and the base after mutation), 1193T; 1460G; 1786G; 1992A; 2160A 2296G; 2724C; 3050A; 3152T (indicated by the position in the cDNA base sequence of the gene described by the same number NM — 139025 and the base after the mutation), a thrombotic disease [TTP, A method for detecting a genetic mutation that may cause hemolytic uremic syndrome (HUS), CAD, stroke, etc., a method for testing a disease risk using the detection method, a gene having the mutation, and a polymorph used in the method Nucleotides and reagent kits. [Selection figure] None
priorityDate 2003-04-25-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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