http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CA-2408263-A1
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> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_16a21eb1ebec621f9d7ccb74940afd0e http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b098eb1e7e76af05920c97b4c744e5fb http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f13a2ea51f792339ba712e62fe8543c7 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_dcad417abea73629be105511a43a45ca http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_bfad29066d2a953d6b321c2b396f3cbc http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_326908aac2bb2d34ade55266bdf0a831 |
| publicationDate | 2001-11-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CA-2408263-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 .fwdarw. A mutation at nucleotide 506 and/or a G .fwdarw. T mutation at nucleotide 502 and/or of a G .fwdarw. C mutation at nucleotide 502 of the HFE cDNA sequence and/or by examining the biological sample for the presence of a C .fwdarw. G mutation at nucleotide 750 and/or a T .fwdarw. 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: 149.