http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-107602690-B
Outgoing Links
Predicate | Object |
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classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C40B40-06 |
filingDate | 2017-11-03-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate | 2020-10-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationDate | 2020-10-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | CN-107602690-B |
titleOfInvention | Pulmonary arterial hypertension related PTGIS gene mutation and application thereof |
abstract | The invention discloses a PTGIS gene mutation related to pulmonary hypertension and application thereof, and relates to the field of pulmonary hypertension diseases. According to the invention, through whole genome sequencing, 3 PTGIS rare variations which are closely related to pulmonary arterial hypertension exist on the PTGIS gene, namely c.755G > A, c.1339G > A and g.23867G > A located at an intron-exon splice site. The discovery is helpful for explaining the etiology of a patient with pulmonary hypertension on the one hand, and on the other hand, the mutant PTGIS gene with the mutation site and the corresponding mutant PTGIS protein can be used as biomarkers of the pulmonary hypertension and used for evaluating the risk of the patient suffering from the pulmonary hypertension; or pre-pregnancy warning indicating the risk of pulmonary hypertension of the offspring of the PTGIS mutant gene carrier; the mutation sites can also be used as targets, and a brand new thought and means is provided for treating pulmonary hypertension. |
priorityDate | 2017-11-03-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 717.