http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2004033513-A1
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 2002-08-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_16b5b32804b5abe724ddf37aa1c5c923 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a169e50f7f76af5df1dde442e3a6ece5 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_cf1b8cbe4f3d0b49e6d06f3511dc4755 |
| publicationDate | 2004-02-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | US-2004033513-A1 |
| titleOfInvention | Method and probes for the genetic diagnosis of hereditary haemocromatosis |
| abstract | In a diagnosis method for haemochromatosis, a biological sample is analyzed according to the invention for the presence of the nucleotide sequence n 5′-cccgccgtggcccagctcgcagggcagctcctc-3′ (Sequence No. 3) instead of the nucleotide sequence 5′-cccgccgtggcccaggccgtggcccagctcgcagggcagctcctc-3′ (Sequence No. 2) based upon a 12 nucleotide long deletion in Exon 16 of the TFR2 cDNA sequence. Or according to the invention a biological sample is analyzed for the presence of nucleic acids which code for a TFR2 product with an amino acid sequence n Pro Ala Val Ala Gin Leu Ala Gly Gin Leu Leu (Sequence No. 5) instead of the amino sequence Pro Ala Val Ala Gin Ala Val Ala Gin Leu Ala Gly Gin Leu Leu (Sequence No. 4). A probe for the diagnosis of haemochromatosis is according to the invention capable of hybridization with nucleic acids of a biological sample in a region which contains the nucleotide sequence 5′-cccgccgtggcccagctcgcagggcagctcctc-3′ (Sequence No. 3) in Exon 16 of TFR2 cDNA sequence. |
| priorityDate | 2001-08-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 124.