http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-107267654-B
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCAdditional | 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 | 2017-08-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate | 2019-11-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate | 2019-11-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-107267654-B |
| titleOfInvention | A SPD biomarker and its application in the preparation of diagnostic reagents |
| abstract | The present invention relates to a SPD biomarker, which is the nucleotide T at position 1124 of human TTC30B gene, or the valine at position 375 of protein expressed by human TTC30B gene; and also relates to the SPD biomarker used in the preparation of SPD diagnostic agents It also relates to a SPD diagnostic agent, which is a reagent for detecting the 1124th nucleotide of the human TTC30B gene or the 375th amino acid of the protein expressed by the human TTC30B gene. By using the above-mentioned SPD biomarkers and the reagents or kits developed based on them, it is possible to diagnose whether the subject has SPD in a simple, rapid and accurate manner, and is especially suitable for prenatal screening. In addition, the reagents or kits of the present invention can also be used to detect healthy adult subjects to assess whether the subjects carry a pathogenic mutation but do not exhibit SPD symptoms due to penetrance insufficiency. |
| priorityDate | 2017-08-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 329.