Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_2a819eda0adf22936a52362eeebb9fb4 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_2e3830f35387a1c32061dea3ee310851 |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2830-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2830-85 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-4702 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N15-85 |
classificationIPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12R1-91 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12P21-02 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-85 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07H21-04 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N5-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate |
1995-03-23-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate |
1998-09-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a23c119abe7ef942b1373f843e65a662 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a3f9690f04cde8903b468bfec01633c1 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_c8d5e5a73faa1f4696c6f6ae1cf9dcb8 |
publicationDate |
1998-09-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
US-5807678-A |
titleOfInvention |
Identification of gene mutations associated with congenital lipoid adrenal hyperplasia |
abstract |
Method for diagnosis of congenital lipoid adrenal hyperplasia and for the detection of the presence of a mutated gene for steroidogenesis acute regulatory protein (StAR) by analyzing nucleic acid obtained from a patient. The nucleic acid can be analyzed by restriction fragment length polymorphism analysis, nucleic acid hybridization, or nucleotide sequencing, among other techniques. A mutation may result in premature termination of the protein, or it may result in the StAR gene not being transcribed or translated, or it may result in a change in the amino acid sequence of the StAR gene product. |
isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-8058408-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2007118913-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2009182124-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/KR-100926899-B1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-0244736-A2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/KR-20020023733-A http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-2357478-A2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-7485714-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2003162205-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2020316224-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-6903183-B1 |
priorityDate |
1995-03-23-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |