http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114107312-B
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | 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/C12N15-11 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
| filingDate | 2021-11-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate | 2022-07-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate | 2022-07-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-114107312-B |
| titleOfInvention | Mutated hypertrophic cardiomyopathy causative gene MYBPC3 and its application |
| abstract | The invention relates to the fields of human genetics and medical cardiovascular technology, in particular to a mutated hypertrophic cardiomyopathy pathogenic gene MYBPC3. Compared with the reference sequence of the wild-type MYBPC3 gene encoding DNA, the mutated hypertrophic cardiomyopathy pathogenic gene MYBPC3 The nucleotide sequence is SEQ ID NO: 7; the base C is deleted at genomic position chrl1: 47359044; the reference genome version is GRCh37. The invention also relates to the application of the mutated hypertrophic cardiomyopathy pathogenic gene MYBPC3 in the preparation of a hypertrophic cardiomyopathy detection kit. The hypertrophic cardiomyopathy mutant gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; the carrier of the mutation is detected, and the subjects are provided with prenatal and postnatal care guidance and genetic counseling, so as to reduce the birth rate of children and reduce the risk of hypertrophic cardiomyopathy. Early diagnosis or auxiliary clinical judgment is of great significance. |
| priorityDate | 2021-11-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 504.