http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-111206092-B
Outgoing Links
Predicate | Object |
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classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y02A50-30 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-16 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-166 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6851 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6851 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-11 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
filingDate | 2020-03-31-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate | 2022-11-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationDate | 2022-11-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | CN-111206092-B |
titleOfInvention | A kind of disease screening primer probe combination and its application, kit and detection method |
abstract | The invention discloses a combination of primers and probes for simultaneous screening of spinal muscular atrophy and primary immunodeficiency disease, its application, a detection kit and a detection method. The detection kit includes screening and detection of spinal muscular atrophy Primers and probes for the detection of atrophy genes, primers and probes for screening and detection of primary immunodeficiency disease (severe combined immunodeficiency disease and agammaglobulinemia) genes (TREC, KREC). The present invention can establish a multiplex digital PCR detection system with high sensitivity, high accuracy, low cost and short cycle, and realize simultaneous detection of the genetic disease spinal muscular atrophy (SMA) pathogenic gene SMN1 copy number, severe Combined with the quantitative detection of the copy number of TREC, a marker related to immunodeficiency disease, and the copy number of KREC, a marker related to agammaglobulinemia, to screen the above three diseases at one time. |
priorityDate | 2020-03-31-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 48.