http://rdf.ncbi.nlm.nih.gov/pubchem/patent/KR-20090072785-A
Outgoing Links
Predicate | Object |
---|---|
assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_b31896b0595e5629c470c80b74b2d2e4 |
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> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_0b612e593d36dafdb2eb2c6b0f8091f7 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6cfea712809d0ad69baf4e3a1704cd72 |
publicationDate | 2009-07-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | KR-20090072785-A |
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 mutation detection method, and a method for screening drugs for treating these diseases. |
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: 1300.