| Predicate |
Object |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-50
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-10 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N9-12
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-53
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-6887
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Y207-11019
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-485 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-53
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N9-12
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-48
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68 |
| filingDate |
2020-05-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate |
2021-11-23-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
KR-20210141131-A |
| titleOfInvention |
Marker for diagnosing myopathy and use thereof |
| abstract |
A composition or kit for diagnosing myopathy comprising a phosphorylase kinase regulatory subunit alpha 1 (phosphorylase kinase regulatory subunit alpha 1: PHKA1) protein variant or a PHKA1 gene variant, and an agent capable of specifically detecting them , and a method for diagnosing the disease using the same, and the PHKA1 protein mutant or PHKA1 gene mutant according to an aspect may be used as a marker for diagnosing myopathy. Diagnosis using the PHKA1 gene mutant enables accurate early diagnosis of myopathy through genetic testing, and accordingly, the treatment effect that has been recently developed can be applied early to maximize the therapeutic effect. |
| priorityDate |
2020-05-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |