http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-110484618-A
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_61c88792ba37ba7ccc97e25128cb7d6c |
| 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/C12N15-12 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-11 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
| filingDate | 2019-09-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f0919bc382f4e45641990ad11392f54d http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9bb8b97890e579749c8e6091f3beaf83 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f0e4ef0b69be26d6a811d9f79888f647 |
| publicationDate | 2019-11-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-110484618-A |
| titleOfInvention | A TTN G52522T mutation affecting the diagnosis and treatment of human dilated cardiomyopathy and its application |
| abstract | The invention belongs to the fields of molecular biotechnology and molecular genetics, and in particular relates to a missense mutation affecting auxiliary diagnosis and clinical intervention of human dilated cardiomyopathy and its application. The mutation site of the missense mutation that affects the auxiliary diagnosis and prognosis of human dilated cardiomyopathy corresponds to the 52522nd nucleotide site G>T in the coding region of the human TTN gene, and is named c.G52522T. The present invention also provides a primer for identifying the above-mentioned missense mutation, discloses the use of identifying the above-mentioned missense mutation in the auxiliary diagnosis and clinical intervention of human dilated cardiomyopathy, and the identification of the missense mutation for human dilated cardiomyopathy. Methods for prenatal diagnosis of cardiomyopathy. The advantage of the present invention is that it provides a new therapeutic target for the prevention and treatment of dilated cardiomyopathy, and provides a powerful molecular biological tool for the early diagnosis and prognosis judgment of dilated cardiomyopathy, which has far-reaching clinical significance and important promotion prospects . |
| isCitedBy | http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-115961018-A http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-110846408-A |
| priorityDate | 2019-09-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 27.