| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_5bc5292a07e34d16eb1d033a16d3aec3
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8a1e000ab9899a86d5f960a15a24dcde |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6841
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10T436-143333
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10S435-968
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61B17-22
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-78
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-00 |
| classificationIPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61B17-22
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6841 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-78
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-566
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-53 |
| filingDate |
1994-04-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
2005-12-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ce2d7245e532f8803dcbcfea3b3398e4
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4b6c05bdbbe3171c703d9541e54ea23d
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_09fd494405756a5a5364d433bfa56029 |
| publicationDate |
2005-12-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
EP-0694080-B1 |
| titleOfInvention |
Diagnosis and treatment of supravalvular aortic stenosis |
| abstract |
The invention relates to the identification of the molecular basis of Williams syndrome. More specifically, the invention has identified that elastin causes or is involved in the pathogenesis of Williams syndrome. Molecular variants of the elastin gene contribute to Williams syndrome. The analysis of the elastin gene will provide an early diagnosis of subjects with Williams syndrome. The diagnostic method comprises analysing the DNA sequence of the elastin gene of an individual to be tested and comparing it with the DNA sequence of the native, non-variant elastin gene. In a second embodiment, the elastin gene of an individual to be tested is screened for mutations associated with Williams syndrome. Presymptomatic diagnosis of Williams syndrome will enable practitioners to prevent vascular obstruction using existing medical therapies like beta adrenergic blocking agents. |
| priorityDate |
1993-04-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |