http://rdf.ncbi.nlm.nih.gov/pubchem/patent/KR-100963405-B1
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Y207-06001 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N15-52 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N9-1235 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-52 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09 |
| filingDate | 2007-12-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate | 2010-06-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate | 2010-06-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | KR-100963405-B1 |
| titleOfInvention | Mutations of the PRPS1 Gene Associated with CMT5 Disease and Uses thereof |
| abstract | The present invention relates to mutations in genes related to the syndromes of peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy. More specifically, the present invention relates to a polynucleotide comprising a mutation associated with a syndrome of peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy or a complementary polynucleotide thereof, a polynucleotide hybridized thereto, a polypeptide encoded by the above, An antibody binds to a polypeptide, and a microarray chip and kit comprising the polynucleotide. The present invention also relates to a method for diagnosing a syndrome of peripheral neuropathy associated with angular nerve deafness and optic neuropathy, a method for detecting mutations, and a method for screening drugs for treating these diseases.n n n n Phosphoribosyl pyrophosphate synthetase; PRPS1; Mutations; Charcot-Marie Tooth disease; CMTX5; Rosenberg-Chutorian syndrome |
| priorityDate | 2007-12-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 1298.