| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_118ecefa978f0ddc7a2c423672e7766a
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8090a5ea39f9b1b1658845081b6952ab |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-16 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6886 |
| filingDate |
1994-07-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
1996-08-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9e18776eb9eb4a9e069e776b8c9bbd2b
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_decdb98d19e031f118c0ecb04ef4c7b3
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_0a0620ee69d055cae5b6e85b31ff8b83 |
| publicationDate |
1996-08-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-5550020-A |
| titleOfInvention |
Method, reagents and kit for diagnosis and targeted screening for retinoblastoma |
| abstract |
Reliable and cost effective testing for mutations in the RB1 gene can be accomplished by quantitatively amplifying exons of the sample RB1 gene using primers complementary to intron regions flanking each exon; and then determining the lengths and/or quantities of the amplification products for each exon and comparing that length or quantity to the length or quantity of amplification products obtained when a wild-type RB1 gene is amplified using the same primers. Differences in length between an amplified sample exon and the corresponding amplified wild-type exon reflect the occurrence of an insertion or deletion mutation in the sample RB1 gene. Differences in quantity reflect the complete absence of an exon, or heterozygosity for a mutant exon. Next, the nucleic acid sequence of each exon found to contain an insertion or deletion mutation is determined, or of all exons in the event no insertion or deletion mutations are identified. Preferably, the amplification of the exons is multiplexed so that more than one exon is amplified in a single vessel using sets of primers which provide gene fragments of distinctive lengths when used to amplify a normal RB1 gene. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10260100-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2010143255-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-7384735-B1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-9365899-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CZ-303980-B6
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/AU-776917-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-6063567-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2004091916-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-6403303-B1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-1129217-A4
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2003022190-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-7801683-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-110484623-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-1129217-A2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-7223842-B1 |
| priorityDate |
1994-07-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |