Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8565039fe3ab9e9b7af5ec29ab679f2a |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P43-00 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61P43-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
filingDate |
2002-10-01-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_cc2f935c8e77eb3192c320b8073d7178 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_29dd04d249088ae2184d51595c18c1b6 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_40513a2968998518e7470811f43923f2 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e284380ab32996c4c98cfaca5fe64e47 |
publicationDate |
2004-07-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
EP-1438335-A1 |
titleOfInvention |
Ferroportin-1 mutant |
abstract |
A mutant, human ferroportin-1 protein and encoding nucleic acid are provided. The mutant ferroportin-1 protein has a deletion of valine 162 compared to wild-type ferroportin-1 protein. The mutant protein and nucleic acid may be useful in detection of a predisposition to iron overload disorders such as haemochromatosis. Furthermore, it is proposed that the valine 162 deletion is a loss-of-function mutation that may underlie iron overload disorders such as haemochromatosis. Therefore, methods of both diagnosis and treatment of haemochromatosis are provided. |
priorityDate |
2001-10-01-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |