| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_d23baca51ed349c50ff9904f9a60102c
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_6cc6a4785f6c7bc7acdb1d3f720a3c31
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_4fb2e4f7d6fa466e4dc5f97c5e60a4d7
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8d793df849c7d48d41c49b53a86e632e
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_871f17601402367e2e3bf031636e506a |
| 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/C07H21-04
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12P19-34
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate |
2010-08-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
2012-02-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ea213deeeb7880730259b178373e2349
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_0ce2880d7f83cb0fe4b299867b53dfb6
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e39788b939e72507794e902d4d07bc2c
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_39df53325369691abe864120753acd9e |
| publicationDate |
2012-02-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-8110357-B2 |
| titleOfInvention |
Method for detecting an individual who is afflicted with or a carrier for Van Buchem's disease |
| abstract |
The genomic locus responsible for Van Buchem's disease is narrowed to an approximately 92 kb region of human chromosome 17 at 17q21. Individuals afflicted with or carriers of Van Buchem's disease exhibit a 52 kb deletion within this 92 kb region. Methods are provided that permit the differentiation between individuals homozygous for and therefore afflicted with Van Buchem's disease, individuals heterozygous for and therefore carriers of Van Buchem's disease, and individuals who are normal with respect to Van Buchem's disease. Also provided are general methodologies for the detection of a wide variety of large genomic deletions. |
| priorityDate |
2000-07-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |