| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_e728794717d35c33526ad8c3fc0b1833 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2561-113
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2563-107
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2525-107 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6818 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate |
2016-03-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3c89e15f557ac95b22f0cf325ef4d580
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_317beccc5ed833689647da3a0b08407a
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9f35b273a7e16a0f7edfe7c554abba12
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5bb82973f696c5f87656721755bb61fe |
| publicationDate |
2017-10-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
KR-20170111935-A |
| titleOfInvention |
PNA probe for detecting causative gene mutation of Wilson disease and the method of diagnosis using the same |
| abstract |
The present invention relates to a peptide nucleic acid (PNA) probe for detecting the c.2621C> T mutation of the ATP7B gene, which is a wilson disease causative gene mutation, and a use thereof for diagnosis of Wilson's disease , The PNA probe of the present invention can perform fluorescence-melting curve analysis with a fluorescent reporter and a quencher attached to a terminal to easily discriminate whether the ATP7B gene c.2621C> T mutation, which is a Wilson's disease gene mutation, is homozygous mutant The PNA probe of the present invention and the kit for diagnosing Wilson disease comprising the PNA probe of the present invention can be usefully used as a method for identifying a mutation site to provide information on the diagnosis or prediction of risk of Wilson's disease |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2022035033-A1 |
| priorityDate |
2016-03-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |