http://rdf.ncbi.nlm.nih.gov/pubchem/patent/ES-2295858-T3
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_43a72884e25aaecffebe0942132d704f |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K38-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N9-6424 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P3-06 |
| classificationIPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K38-00 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-57 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N9-64 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K38-48 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61P3-06 |
| filingDate | 2004-04-23^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate | 2008-04-16^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_71830ce8638b8d09df6d5f06c00b0cd1 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b3a9f960b7d1a4ab16c2f7e701f5c00c http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6acd15f2e90c04f87b12386f6aacf61f http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d66ecafeaad3eaab3dbdfe8d98acd006 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_93142079096c37497480bc22705bcbf1 |
| publicationDate | 2008-04-16^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | ES-2295858-T3 |
| titleOfInvention | EM MUTATIONS THE HUMAN PCSK9 GEN ASSOCIATED WITH HYPERCHOLESTEROLEMIA. |
| abstract | Procedure for detecting the presence of or predisposition to hypercholesterolemia, disorders of lipid and lipoprotein metabolism, atherosclerosis or cardiovascular diseases in a subject, the method comprising detecting in a sample of said subject the presence of an alteration in the gene PCSK9 or in the NARC-1 polypeptide, said alteration in said gene or said polypeptide being indicative of the presence of or predisposition to hypercholesterolemia, disorders of lipid and lipoprotein metabolism, atherosclerosis or cardiovascular diseases and being selected from among the group consisting of a TA substitution in nucleotide 625 of SEQ. ID. No. 1, a T-C substitution in nucleotide 890 of SEQ. ID. No. 1, an A-G substitution in nucleotide 19697 of SEQ. ID. nº: 3, a substitution of the serine residue in position 127 of the SEC. ID. No. 2 with an arginine, a substitution of the phenylalanine residue at position 216 of the SEC. ID. No. 2 with a leucine, a substitution of the isoleucine moiety at position 474 of the SEC. ID. No. 2 for a valine and a combination thereof. |
| priorityDate | 2003-04-25^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
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