| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_db74a8be68588f4964786924d042a99e
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_d23baca51ed349c50ff9904f9a60102c
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_4fb2e4f7d6fa466e4dc5f97c5e60a4d7
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_871f17601402367e2e3bf031636e506a
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8d793df849c7d48d41c49b53a86e632e |
| 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/C12P19-34
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07H21-04
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate |
2012-01-03-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2c8356d7545b9542df131b122e5c9752
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_8ed1c568a9134a91917110d07af2acd1
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_8c686075c998a3d4d50b680f599bb327
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a038b41496becffd4e3c5a00a241a69a |
| publicationDate |
2012-05-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-2012129170-A1 |
| titleOfInvention |
Methods for Identifying Genomic Deletions |
| 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 |