http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2004086862-A1
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-16 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 2001-04-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_cf1b8cbe4f3d0b49e6d06f3511dc4755 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_16b5b32804b5abe724ddf37aa1c5c923 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f36f4efcb0acf067f1a71ee39d07d11e http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4a8cfcb2638386512559d63b80ca06a0 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9816e26a08d93e053c7b6d1464b3fa0e http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3d16b71ce12dc3eeb68202fa400ae02a |
| publicationDate | 2004-05-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | US-2004086862-A1 |
| titleOfInvention | Method and probes for the genetic diagnosis of hemochromatosis |
| abstract | A method to diagnose hemochromatosis includes examining a biological sample for the presence of a G→A mutation at nucleotide 506 and/or a G→T mutation at nucleotide 502 and/or of a G→C mutation at nucleotide 502 of the HFE cDNA sequence and/or by examining the biological sample for the presence of a C→G mutation at nucleotide 750 and/or a T→A mutation at nucleotide 515 and/or a frameshift mutation by insertion of a cytosine in a polyC tract at nucleotides 84-88 of the TFR2 cDNA sequence or examining a biological sample for the presence of respective amino acid substitutions. Probes according to the invention are capable of hybridizing with nucleic acids of a biological sample in a region corresponding to a region of the HFE or TFR2 cDNA sequence containing the above mentioned positions if respective mutations exist. |
| priorityDate | 2000-05-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 257.