| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_e5351c62aee4203f2be2944f21a6def2 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-112
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-044 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-53
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6813
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N15-115 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-53
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-115 |
| filingDate |
2014-12-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f5997c8a3c23e6df921290c3bb7610d5
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f070946d392e0e48843dbe28bbfa5766
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e797c921696b534be3d574227bd9ffe6
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_17352489f62bdc0f0b12c5c153ab5810
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2422a0b487ab71605fb7a366028186b3 |
| publicationDate |
2016-01-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
KR-20160006580-A |
| titleOfInvention |
Novel Mutations Implicated in Familial Hypercholesterolemia and Use Thereof |
| abstract |
The present invention relates to a diagnostic kit for dyslipidemia, and more particularly, a novel gene marker for familial hypercholesterolemia. The present invention can be efficiently applied to determine the occurrence of a mutation based on full-length exome sequencing in a disease caused by genetic factors and to identify a novel pathogenic mutation. The present invention can be used for reliable early diagnosis or prediction of risk of dyslipidemia including familial hypercholesterolemia by using a gene or protein marker. |
| priorityDate |
2014-07-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |