http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-0559868-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_f8c0982b0f02b1ed6d20a315370a3a3a |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09 |
| filingDate | 1992-09-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a3079786d8aa801cb68740f0e04d0adc http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_912d83d8409ccb2a4f1c3acd0acbb7b4 |
| publicationDate | 1993-09-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | EP-0559868-A1 |
| titleOfInvention | An assay for a new gaucher disease mutation |
| abstract | Method for detecting a new mutation in Gaucher disease in an allele in a human subject having a mutation by insertion of a nucleotide guanine adjacent to nucleotide position 57 located in exon 2 at the glucocerebrosidase gene normal. The mutation is identified first by amplification, using an enzyme genome amplification primer (PCR), of a region of human genomic DNA containing the nucleotide positions 57 and 58 of exon 2 at the level of the glucocerebrosidase gene, then the mutation is detected. |
| priorityDate | 1991-09-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 248.