| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_1a5642f5324971475370637b0837ffd9
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_5bc5292a07e34d16eb1d033a16d3aec3 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61B17-22
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
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 |
| 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/C12N1-08
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/G01N33-566
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-78
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-53
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07H17-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12P19-34 |
| filingDate |
1994-04-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
2011-08-31-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5586e46773922d3a7293a8ba38a659c2
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_70e21c6b94c9faa9b743e3be69971f8f
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_14e18499e4a9cfd41dc75f1040b96357 |
| publicationDate |
2011-08-31-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
EP-1612280-B1 |
| titleOfInvention |
Diagnosis and treatment of Williams syndrome |
| 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 |