Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_d23baca51ed349c50ff9904f9a60102c http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_0b2df5a0b5587718c48a2dc88cae52ec http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_4b2ea56b22e27be02cffc1f0a6bf36f0 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_4fb2e4f7d6fa466e4dc5f97c5e60a4d7 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/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12P19-34 |
filingDate |
2001-07-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_14d6a4b03810f8048e56a24f60f981c2 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_30bfa22a4a311df4336aa647cfb3955a http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_74b89dc56ac4295f9a74b410986e4a9b |
publicationDate |
2002-02-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
WO-0210455-A2 |
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 |