| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_f8c0982b0f02b1ed6d20a315370a3a3a |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-16
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 |
1993-02-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_912d83d8409ccb2a4f1c3acd0acbb7b4 |
| publicationDate |
1994-04-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
JP-H0698798-A |
| titleOfInvention |
Gaucher disease: Detection of a novel mutation in intron 2 of the glucocerebrosidase gene |
| abstract |
(57) [Summary] [Object] To provide a method for detecting a novel mutation in intron 2 of the glucocerebrosidase gene in Gaucher disease. [Constitution] Human-derived genomic DNA is amplified by a PCR primer pair, and a mutation at nucleotide position 1 of glucocerebrosidase gene intron 2 is detected by hybridizing with a probe. |
| priorityDate |
1992-02-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |