http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-1328660-A1

Outgoing Links

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assignee http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_380afc784db2a950709519b81464655a
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/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883
filingDate 2001-08-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d4c1e16f3a64b20a64822ad1453702af
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e312c26f48074979008b1ace4a93fb26
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http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_8c3c1c2aa3176e15015bc14e26ffe641
publicationDate 2003-07-23-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-1328660-A1
titleOfInvention Analysis methods for hemochromatosis mutation
abstract The inventions deals with determination of the human hemochromatosis gene (HFE) mutation (C282Y of HFE protein), responsible for the disease of hereditary hemochromatosis. The invention is important in diagnosis and risk assessment for this disease. The method consists of a single-tube high-throughput PCR assay for the detection of C282Y. We invented that it is advantageously possible to combine three concepts each known separately in prior art from different sources: allele specific PCR, mutagenically separated PCR, and amplicon identification by specific dissociation curves. Analysis can be performed in either a conventional or fluorescence-detecting thermocycler using the same primers, reactant constituents and cycling protocol. PCR products are identified either by their length or melting temperature (Tm). Primer cross reactions are prevented by deliberate primer : primer and primer : template mismatches. This homogenous assay is fast, reliable, robust, automatable and does not require fluorescent oligonucleotide probes. It is therefore significantly more economic and straightforward approach for HFE genetic screening than used in the prior art.
priorityDate 2000-08-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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