| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_5d8c90d59370c359bf04ea4a1f11b74e |
| 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 |
| filingDate |
2020-06-23-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a41f43dd985e374d41635d1fa0339ccd
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_68ef830e5720b0639a02c4d6c3584d76
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a54a719b71142b1a6571d05918e81d1b
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9669efb7c90fdd25ee805b1ff080ebf9
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_679ce002ec5ca65e9f813aa8c91eeb2b |
| publicationDate |
2020-08-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
CN-111593118-A |
| titleOfInvention |
Gene mutations used to diagnose Marfan syndrome |
| abstract |
The invention discloses a gene mutation for diagnosing Marfan syndrome, the mutation is c.5651_5664del:p.D1884fs. The present invention finds through second-generation sequencing that c.5651_5664del on the FBN1 gene exists in the genome of patients who have been diagnosed with Marfan syndrome, but this mutation is not found in the control population, so the above gene mutation can be used for the diagnosis of Marfan syndrome. Symptom biomarkers. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113718027-B
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113718027-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114107452-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113980971-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113980971-B |
| priorityDate |
2020-06-23-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |