http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114959000-A
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_69500b5db4c29534d61fa5432f221ec2 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y02A50-30 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-11 |
| filingDate | 2021-02-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_c839aecfd95cb5191c5e3afbe9b5fd84 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e15212197871abcbeff25c7e3b921c6c http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_26eef28df0e4aa00987cc81c9807e518 |
| publicationDate | 2022-08-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-114959000-A |
| titleOfInvention | A probe composition, detection reagent and detection kit for detecting human phenylketonuria |
| abstract | The present invention relates to the technical field of comprehensive prevention and treatment of birth defects and genetic diseases, in particular to a probe composition, a detection reagent and a detection kit for detecting human phenylketonuria, wherein the probe composition is directed against human phenylacetone The urine disease-related gene targeting sequence is selected from several sites on the PAH gene, some sites on the PTS gene, some sites on the QDPR gene, some sites on the PCBD1 gene, some sites on the GCH1 gene, SPR At least one of several sites on the gene, and several sites on the DNAJC12 gene. The invention solves the problem of missed diagnosis and misdiagnosis caused by the incomplete coverage of the detection reagent site of PKU in the prior art, which is prone to false negatives or false positives. The detection method of the above-mentioned probe composition is simple in operation, rapid in detection, and low in requirements for technical personnel, which can make up for the defects of PKU detection products on the market at present, and improve the health and economic benefits. |
| priorityDate | 2021-02-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 89.