| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8a8261b0221de7a47c139161dfad1e1d |
| 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 |
2021-11-29-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_47819e7b1cbd1490b7e9cd084904e0a2
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_22b019c060407f81a4543a84e7be5c1d
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_38607e31a8ccacdd270507c60de34796
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3a12c0d90173aa34f63a43068f5c01fd
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_affd9c7448ba47a47f1ddd970f67d0bf |
| publicationDate |
2022-01-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
CN-113913510-A |
| titleOfInvention |
Gene mutation for diagnosing congenital scoliosis and application thereof |
| abstract |
The invention discloses a gene mutation for diagnosing congenital scoliosis and application thereof FGFR1 The mutant sites c.2334dupC and c.2339T are found on the gene>C、c.1107G>A、c.1261A>And G, in-vitro functional experiments verify that the mutation sites are pathogenic mutation sites of the congenital scoliosis, the invention provides a noninvasive method for diagnosing the congenital scoliosis, whether the mutation sites exist in a blood sample of a subject is detected, and then early diagnosis and early intervention can be achieved. |
| priorityDate |
2021-03-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |