| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_18d92c46f60af8af24e262b67381d7eb |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N5-166 |
| classificationIPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12R1-91 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-483
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N5-16
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N5-10
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N5-26
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N27-447
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-53
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-566
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-06
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N37-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-02 |
| filingDate |
2000-10-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_03987b7ffff9fb66aa651f6c09532df5 |
| publicationDate |
2002-10-23-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
MX-PA02003573-A |
| titleOfInvention |
DIPLOID CONVERSION IN HAPLOID FOR GENETIC DIAGNOSIS. |
| abstract |
The detection of mutations associated with hereditary diseases is complicated by the diploid nature of mammalian cells. Mutations present in one allele are often masked by the natural type sequence of the other allele. Individual alleles can be isolated from all chromosomes within the hybrids of somatic cells generated from a single fusion. The nucleic acids of the hybrids can be analyzed to determine the mutations in an unambiguous manner. This approach was used to detect two mutations that cause cancer that had previously challenged the genetic diagnosis. One of the families studied, La Familia G Warthin, was the first relationship with hereditary colon cancer syndrome described in the biomedical literature. |
| priorityDate |
1999-10-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |