Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_dc62792656aa2e858252e97e5ffaca79 |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N9-0077 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 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/C12Q1-26 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N9-02 |
filingDate |
2000-05-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_fd3c276756fd27a171a17266d6160c62 |
publicationDate |
2002-11-13-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
EP-1255855-A2 |
titleOfInvention |
Diagnosis of primary congenital glaucoma |
abstract |
Methods of diagnosing primary congenital glaucoma, by detecting particular mutations in a human cytochrome P4501B1 (CYP1B1) gene, are disclosed. Methods include hybridization analysis, such as Southern or Northern analysis, which use hybridization of a mutant nucleic acid probe to the CYP1B1 gene; direct mutation analysis by restriction digest; sequencing of the CYP1B1 gene; hybridization of an allele-specific oligonucleotide with amplified genomic DNA; or identification of the presence of mutant proteins encoded by the CYP1B1 gene. |
priorityDate |
1999-05-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |