http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CA-2194302-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_c06d114257182ee7efd4c696c5fdb836 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8e071d18fea054bf8d1420d483e78ed1 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K38-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-325 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A01K2217-05 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-683 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-4716 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-6893 |
| classificationIPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K38-00 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68 |
| filingDate | 1995-06-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9b3b36e777da2b696c958bd738732791 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e56631c44d45c82a7d440444dd86ed74 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_000c233d423e1c4cb86b8a3201f27611 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f3689dd550a42bf217c06d1b7a58208e http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b8935f03b55710e74fae419a2cfce29f |
| publicationDate | 1995-12-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CA-2194302-A1 |
| titleOfInvention | Methods for detecting mutations associated with hypertrophic cardiomyopathy |
| abstract | The invention pertains to methods for detecting the presence or absence of a mutation associated with hypertrophic cardiomyopathy (HC). The methods include providing DNA which encodes a sarcomeric thin filament protein (e.g., .alpha.-tropomyosin or cardiac troponin T) and detecting the presence or absence of a mutation in the amplified product which is associated with HC. DNA encoding an actin-associated protein, a myosin-associated protein, or a sarcomeric protein other than .beta. cardiac heavy chain can also be used in the methods of the present invention. The invention further pertains to methods for diagnosing familial HC (FHC) in a subject. These methods typically include obtaining a sample of DNA which encodes a sarcomeric thin filament protein from a subject being tested for FHC and diagnosing the subject for FHC by detecting the presence or absence of a mutation in the sarcomeric thin filament protein which causes FHC as an indication of the disease. An alternative method for diagnosing HC includes obtaining a sample of at least two sarcomeric proteins from a subject being tested for HC and diagnosing the subject for HC by detecting an abnormality in the sarcomeric proteins as an indication of the disease. Other aspects of the invention include kits useful for diagnosing HC and methods for treating HC. |
| priorityDate | 1994-06-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 239.