http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-108330188-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 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N5-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47 |
| filingDate | 2018-01-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate | 2021-10-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate | 2021-10-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-108330188-B |
| titleOfInvention | Isolated nucleic acids encoding POC1B mutants and uses thereof |
| abstract | The invention relates to a gene mutant and application thereof. In particular, the invention relates to the use of an agent for detecting a mutation site for the preparation of a biological sample for screening for a predisposition to peripheral cone dystrophy and to an isolated POC1B mutant nucleic acid, an isolated polypeptide, a system for screening a biological sample for peripheral cone dystrophy, a kit for screening a biological sample for peripheral cone dystrophy, a construct and a recombinant cell. Wherein the mutation site comprises at least one of a c.710A > G mutation and a c.1354C > T mutation. By detecting whether the mutation site exists in the biological sample, whether the biological sample is susceptible to peripheral cone cell malnutrition can be effectively detected, and the mutation site can be further used as an early diagnosis basis for detecting cone dystrophy and cone dystrophy. |
| priorityDate | 2018-01-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 393.