Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_73f9df14c7d60838e4e41d0c7aef6637 |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-224 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10T436-143333 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2500-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2333-96458 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-37 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P9-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-573 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A01K67-027 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K48-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-37 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-53 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-573 |
filingDate |
2005-05-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_51b8cb405faafeddeb7c38387888be54 |
publicationDate |
2007-03-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
EP-1766063-A2 |
titleOfInvention |
Methods and kits to detect hereditary angioedema type iii |
abstract |
The present invention relates to a method of diagnosing hereditary angioedeme type III (HAE III) or a predisposition thereto, the method comprising determining in vitro from a biological sample of said subject the presence or absence of a disease-associated mutation in a nucleic acid molecule regulating the expression of or encoding coagulation factor XII; wherein the presence of such a mutation is indicative of a hereditary angioedema type III or a predisposition thereto. The present invention also relates to a method of identifying a compound modulating coagulation factor XII activity which is suitable as a medicament or a lead compound for a medicament for the treatment and/or prevention of hereditary angioedema type III. Furthermore, the present invention relates to gene therapy methods and to a kit for diagnosing hereditary angioedema type III. |
isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-9340820-B2 |
priorityDate |
2004-05-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |