Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_52a58fe0c74c738269f0cd5ea75cfda0 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_9f84c7cdd4b0afa72b37f220fc861d27 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_26d5c4858599c25df155b53232668039 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_826bdc7f12c4f4d03245d90ddd048835 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_db78bd1ee92df00aef11c82820820be2 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_2f6df56a4e9b17d56d9c57dcf04c46b3 |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B99-00 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/C12Q2600-154 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B25-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-683 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6827 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B25-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12P19-34 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate |
2011-02-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_143b592c48d8694c8d3b95badceaeeeb http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_602af20a27a0e334a15cdbad25912e1e http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6fd5d62475c090ce7c120b7b51d0ecbe http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ce5c5e01e14ff40fa868fa90620415eb http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_85f4b5e9373a2b5d375da8be22afcc45 |
publicationDate |
2012-12-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
EP-2531618-A2 |
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. 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 |