| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_46aab6280d96a7a8d807838ba70342a8 |
| 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/G01N33-68
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_0b5078d81e6835d6eae4d11039c7ffa8
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e34ae2d0ab5fd35549683d733fb9cd28
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a81f1052c78c9477adf1c9ba6c2d835e
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_586b63e79f97fa90464461363d71d59f
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_99a2d0dc6b7d6c199e708ed48aa3db8c
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e64bf4521d1574563be09cd6b02aee86 |
| publicationDate |
2009-10-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
EP-2110441-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 |