http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-108866067-B
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-68 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/C12N15-12 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68 |
| filingDate | 2017-05-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate | 2021-12-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate | 2021-12-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-108866067-B |
| titleOfInvention | A pathogenic mutation of Leber's congenital amaurosis and its detection reagent |
| abstract | The invention discloses a pathogenic mutation of Leber's congenital amaurosis and a detection reagent thereof. A mutated IFT52 gene causing Leber's congenital amaurosis, the mutated IFT52 gene is a homozygous mutation IFT52 p.T186A. The gene number of the wild-type IFT52 gene in the Ensembl database is: ENSG00000101052, the mutated IFT52 gene is mutated from A to G at the physical position of chr20:42242560, and other parts are the same as the wild-type. The present invention provides a new pathogenic locus of a pathogenic gene, and provides a new molecular biology basis for the diagnosis of the disease. |
| priorityDate | 2017-05-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 28.