http://rdf.ncbi.nlm.nih.gov/pubchem/patent/AT-6806-U1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_d4c05cbec6af0d0428982af2f53a5100 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-16 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 |
| 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> |
| publicationDate | 2004-04-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | AT-6806-U1 |
| titleOfInvention | METHOD AND PROBE FOR THE GENETIC DIAGNOSIS OF HEMOCHROMATOSIS |
| abstract | A method for diagnosing hemochromatosis includes examining a biological sample for the presence of a G-> A mutation on nucleotide 506 and / or a G-> T mutation on nucleotide 502 and / or a G-> C mutation on nucleotide 502 of the HFE cDNA Sequence and / or the examination of the biological sample for the presence of a C-> G mutation on nucleotide 750 and / or a T-> A mutation on nucleotide 515 and / or a frameshift mutation by introducing a cytosine into a PolyC tract nucleotides 84-88 of the TFR2 cDNA sequence or testing a biological sample for the presence of appropriate amino acid substitutions. The probes according to the invention are capable of hybridizing with nucleic acids from a biological sample in a region corresponding to the region of the HFE or TFR2 cDNA sequence containing the nucleotides mentioned, if corresponding mutations are present. |
| 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: 108.