| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_b8be6a6c990669567cc455d32b00535e |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K38-00 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-705 |
| classificationIPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K38-00 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-705
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate |
1999-07-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate |
2001-01-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
EP-1069184-A1 |
| titleOfInvention |
Human anion transporter gene implicated in Salla disease and lysosomal sialic acid transport |
| abstract |
This invention decribes a novel human sialic acid transporter. This invention alsonencompasses nucleic acids encoding this protein. The protein can be used in thenidentification of activators or inhibitors. Several mutations have been observed innpatients suffering from genetic disorders such as lysosomal storage disorders (Sallandisease (SD) and the more severe infantile type ISSD). These mutations are informativenin a diagnostic context. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-5317056-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2008143192-A1 |
| priorityDate |
1999-07-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |