| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_9bc5ec507cef02d1b19e77cf31f882df |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2333-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-164 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-6893
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47
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/C07K14-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12 |
| filingDate |
2018-02-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_25b6ceb9c6ed0d8f538be3d2a73f69e2
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_fd9c890e792f98072f9a461d85bd444d
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_343075224e3c04fce11fa7c41da0e0d9
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_374a543dcb70164dee42344f72286ea1
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d0ea06362e19dd5d8346c33568d84ae2 |
| publicationDate |
2018-06-01-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
CN-108103066-A |
| titleOfInvention |
A pathogenic mutation gene CRB2 p.R1249G of hereditary RP and its application |
| abstract |
The invention discloses a pathogenic mutation gene CRB2p.R1249G of hereditary RP and its application. A mutated CRB2 gene, wherein the mutation is the homozygous mutation CRB2p.R1249G of the CRB2 gene. The gene number of the wild-type CRB2 gene in the Ensembl database is: ENSG00000148204. The base of the mutated CRB2 gene p.R1249G at physical position 126139228 is mutated from C to G, and the other parts are the same as the wild-type. The application of the mutated CRB2 gene of the present invention as a detection target in the preparation of hereditary RP detection reagents or detection equipment. The invention provides the pathogenic site of the new pathogenic gene of the hereditary RP, and provides a new molecular biology basis for the diagnosis of the disease. |
| priorityDate |
2018-02-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |