http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-0559868-A4
Outgoing Links
Predicate | Object |
---|---|
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> |
publicationDate | 1993-11-03-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | EP-0559868-A4 |
titleOfInvention | An assay for a new gaucher disease mutation |
abstract | A method for detecting a new Gaucher disease mutation in an allele in a human having an insertion mutation of a guanine nucleotide adjacent to nucleotide position 57 in the normal glucocerebrosidase gene exon 2 is provided. Identification of the mutation is accomplished by first amplifying, with a polymerase chain reaction (PCR) primer, a region of human genomic DNA containing nucleotide positions 57 and 58 of glucocerebrosidase gene exon 2 followed by detection of the mutation. |
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: 238.