| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_f650dd356a10a72797601532abdbb557 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858
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/C12Q1-6858 |
| filingDate |
2019-09-10-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d3f0960eeb1561b35d0bfcaa94629bca
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_912513eef583e123a7729d451af4f51c
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_7e7c03ae91f65710fa6dab5bf1ea9eab
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_397ee5af52fdd191a0dbe404337a6250 |
| publicationDate |
2019-12-31-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
CN-110628892-A |
| titleOfInvention |
A kit for the detection of methylmalonic acidemia pathogenic gene mutations |
| abstract |
The invention discloses a kit for detecting methylmalonic acidemia pathogenic gene mutation, comprising the following components: 4 pairs of PCR amplification and sequencing primers for the coding regions of the 1st to 4th exons of MMACHC gene; 15 pairs of PCR amplification and sequencing primers for the coding region of exons 1 to 13, PCR amplification reagents, PCR product purification reagents, and DNA sequencing reagents. The kit of the invention is used to detect the mutant of the pathogenic gene of methylmalonic acidemia, can quickly and conveniently find out the carrier and the patient of the pathogenic gene, can be applied to prenatal diagnosis, and can reduce the level of methylmalonic acid. the incidence of blood disease. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-111763726-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-111088348-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114457148-A |
| priorityDate |
2019-09-10-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |