Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_78587acbfc8d4c9e9ac3baa7021087d7 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_d21cbff64022f95c237c0bd3ec8656ca |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2333-70525 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6897 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6841 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6897 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6841 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate |
2001-10-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate |
2004-11-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ca753a19c73b21fdf82c9d327e2418cf http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e5820ca5b2a878fb2ede141360bcbfae http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_fefd17e5105ac7a1acd1fd3f051bee16 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b6d6d809741ba114426e2f845b324e28 |
publicationDate |
2004-11-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
US-6818401-B2 |
titleOfInvention |
Method of detection and interpretation of mutations through expression or function tests of haploid genes |
abstract |
The present invention relates to a method for detection and interpretation of loss-of-function or gain-of-function mutations for test genes of interest. The genes of interest include those associated with inherited genetic disorders. The present invention involves the process of obtaining a sample of genetic material from an individual in the form of tissue or cells, separation of the genetic material from the cells of the individuals into haploid sets by transferring the individual chromosomal entities into a population of target cells, and monitoring the target cell population for successful transfer and expression of the test genes of interest using various functional, immunological and structural assays. |
priorityDate |
2000-10-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |