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assignee http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_0886ec31ebb266f07c28875e8ff43a92
classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-566
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
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http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12M1-00
filingDate 2000-06-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9ca7d80617112d3cf1c0ba268903b264
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_34cb18a93cb090469fe9aacb717e721b
publicationDate 2002-01-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber JP-2002000298-A
titleOfInvention Diagnostic device for 22q11.2 deficiency syndrome, diagnostic device for Down syndrome
abstract (57) [Summary] To develop a new device that can be simply, quickly and easily implemented for diagnosing 22q11.2 deficiency syndrome and Down syndrome. SOLUTION: By using the apparatus of the present invention, 22q11.2 By quantifying the amount of the UFD1L gene, which is the gene responsible for the deficiency syndrome, by the TaqMan quantitative PCR method and examining the deficiency, it became possible to diagnose the 22q11.2 deficiency syndrome. In addition, by using the device of the present invention, the amount of the S100β gene present on chromosome 21 was quantified, and trisomy on chromosome 21 was examined, thereby making it possible to diagnose Down syndrome.
priorityDate 2000-06-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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