http://rdf.ncbi.nlm.nih.gov/pubchem/patent/DE-19910912-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_fab5a78161702097f97524ce6e5cdcd7 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-112 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-106 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N9-1205 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-71 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N9-12 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6886 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-71 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 1999-03-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b8b944f518422b2e1224c783d3987f93 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_0b52c5e30441d8ac529979a5cd3c44ec http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_c6ebd8590331f61f21afe7903475f8ac |
| publicationDate | 2000-09-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | DE-19910912-A1 |
| titleOfInvention | New sequence variants of the human RET proto-oncogene and their use |
| abstract | The invention relates to novel sequence variants of the human RET proto-oncogene and their use for the diagnosis of a spectrum of diseases, in particular for determining a genetic predisposition for Hirschsprung's disease and further defecation disorders, for the diagnosis of an individually different responsiveness to therapeutics and for the development of therapeutics on the basis of pharmacogenetic principles. DOLLAR A The aim of the invention is to determine variants, polymorphisms, mutations and resulting haplotypes in the DNA sequence of the human RET proto-oncogene and to determine their correlations with disease dispositions. Based on these correlations, a method for diagnosing these disease dispositions as well as a system for the development of therapeutics should be provided. DOLLAR A It has been found that in addition to 4 already known polymorphisms (at positions 135, 2071, 2307 and 2710) and 2 known mutations (at positions 2372 and 2690) in the coding region of the sequence of the human RET proto-oncogene both in the coding as well as the non-coding region other variants are available. It has also been found that these genetic variants with the disposition for various diseases, eg. As the Hirschsprung's disease, correlate. DOLLAR A The subject of the invention is then the sequence of the human RET proto-oncogene, which at positions 135, intron2 ds + 9, 447, 785, 799, 885, 972, 1013, 1825, 2071, ... |
| priorityDate | 1999-03-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 34.