| Predicate |
Object |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2333-4727
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-30 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-4728
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-6893
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K16-18 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K16-18
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68 |
| filingDate |
2008-10-03-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate |
2010-12-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
JP-2010539957-A |
| titleOfInvention |
CC2D2A gene mutation associated with Joubert syndrome and its diagnostic method |
| abstract |
The present invention provides a method for screening subjects for mutations in the CC2D2A gene associated with Joubert syndrome, an autosomal recessive form of mental retardation. The present invention also provides a protein associated with Joubert syndrome, such as a protein comprising an amino acid sequence ending with DHEGGGSMES (SEQ ID NO: 1). Also provided are methods for screening a subject to identify nucleotide sequences encoding the protein and nucleotide sequences or proteins associated with Joubert syndrome. |
| priorityDate |
2007-10-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |