http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114150051-A
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_77afe761bc147e46daa2292eeffa740b |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6837 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-11 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6837 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
| filingDate | 2021-11-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5fc55c5bbb1f4c1e6661a0eb87877c42 |
| publicationDate | 2022-03-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-114150051-A |
| titleOfInvention | Integrated kit and method for comprehensively detecting five complex genetic diseases |
| abstract | The invention provides a method and a kit for integrally and comprehensively detecting five complex genetic diseases. The detection method and the kit are used for detecting all commonly known pathogenic variations of related genes of Duchenne muscular dystrophy, thalassemia, spinal muscular atrophy, hereditary deafness and congenital adrenal cortical hyperplasia. The invention can simultaneously detect the deletion/duplication of the single exon horizontal copy number of the disease and the single nucleotide variation of the common clinical related known pathogenicity by only one experiment and one technical platform, can effectively overcome the defects of low diagnosis efficiency and high detection cost caused by the combination of a plurality of technical platforms in the existing gene detection method, can obviously improve the standardization degree of the clinical detection of the disease by a doctor, and provides an integrated molecular diagnosis method with high timeliness, high accuracy and high operability for the diagnosis and genetic intervention of similar complex genetic diseases, thereby obviously improving the diagnosis, treatment, prognosis and genetic consultation levels of the disease. |
| priorityDate | 2021-11-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 699.