http://rdf.ncbi.nlm.nih.gov/pubchem/patent/KR-101542907-B1
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N15-11 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-11 |
| filingDate | 2013-06-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate | 2015-08-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate | 2015-08-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | KR-101542907-B1 |
| titleOfInvention | PLEKHG5 as a causative gene of Charcot-Marie-Tooth disease and diagnosis method for the disease |
| abstract | The present invention relates to a pleckstrin homology domain-containing, family G member 5 (PLEKHG5) as a novel causative gene for Charcot-Marie-Tooth disease (CMT) Specifically, the PLEKHG5 gene of the present invention of the CMT patient was identified as a gene responsible for CMT by a complex heterozygous PLEKHG5 mutation in which the 1988 thymidine thymine and the 2458th guanine were replaced by cytosine from the starting point of the ATG translation initiation codon, Markers containing mutations were found to be useful for the diagnosis of CMT. |
| isCitedBy | http://rdf.ncbi.nlm.nih.gov/pubchem/patent/KR-101896147-B1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/KR-20170062655-A |
| priorityDate | 2013-06-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 164.