| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_f274b8e7dac26782ef609c68b74c7df5
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_399e04f2a264138ff2942565ee107c0d
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_6647b168f5cb5abcadeb57991becb2f3
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_e1bb2610a28d11d65a328187f7828136 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-325
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-118
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07H21-00 |
| filingDate |
2008-08-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e4c01a3a39979a0ab025a063c5ed2aeb
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3ed43aa57ede87132f96474b115452d6
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_0474fcdcfb5bf554dd6644f4afd39332
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ba17b5af63c6ef5d6d7d6d8dd6b78745 |
| publicationDate |
2010-03-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-2010062427-A1 |
| titleOfInvention |
Method for detecting disease-associated mutations |
| abstract |
A method is described for diagnosing individuals as having hypertrophic cardiomyopathy, e.g. familial or sporadic hypertrophic cardiomyopathy. The method provides a useful diagnostic tool which becomes particularly important when testing asymptomatic individuals suspected of having the disease. Symptomatic individuals have a much better chance of being diagnosed properly by a physician. Asymptomatic individuals from families having a history of familial hypertrophic cardiomyopathy may be selectively screened using the method of this invention allowing for a diagnosis prior to the appearance of any symptoms. Individuals having the mutation responsible for the disease may be counseled to take steps which hopefully would prolong their life, i.e. avoid rigorous exercise. The methodology used in the above method also has broad applicability and may be used to detect other disease-associated mutations in DNA obtained from subject being tested for other disease-associated mutations. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/RU-2745079-C1 |
| priorityDate |
1992-12-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |