| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_2f6df56a4e9b17d56d9c57dcf04c46b3 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-154
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-16
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B99-00 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-683
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6827
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B25-20 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B25-20
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12P19-34 |
| filingDate |
2011-02-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_cfc807c76048438ee75624524d267404
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e690a4754bc1c3e22854b733b1cfb938
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_990a76594bbbb40d818371ebef652a6b
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_265943d44b61dd3a164a758ea08065c5
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e616fd349310da9dee345f1ca500525d |
| publicationDate |
2019-03-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
EP-3460074-A1 |
| titleOfInvention |
Method to detect repeat sequence motifs in nucleic acid |
| abstract |
Methods for determining the presence or absence of expansion of CGG repeat sequence in the FMR1 gene presence or absence of expansion of CCG repeat sequence in the FMR2 gene are provided. The methods are useful in identifying an individual with normal/intermediate, versus premutation or full mutation allele of FMR1 gene and FMR2 gene due to the expansion of CGG repeats and CCG repeats in the 5'-untranslated region respectively. The methods are also useful for screening newborns for fragile X syndrome or for screening women to determine heterozygosity status with full premutation of the CCG repeat tract. The methods are also useful in estimating the premutation and full mutation carrier frequency and estimating the prevalence of FXTAS AND FXPOI in a population. n The methods are simple, rapid and require small amount of sample. |
| priorityDate |
2010-02-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |