http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2019144944-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_f57b0c0a31846d32c96c6b72bdbf2260 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-154 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-00 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B40-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B40-00 |
| filingDate | 2018-11-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b163faf225cf4721bc7a517b2ea86163 |
| publicationDate | 2019-05-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | US-2019144944-A1 |
| titleOfInvention | Treatment and diagnosis of epigenetic disorders and conditions |
| abstract | A method identifies a trinucleotide expansion disorder in a mammalian subject. The method includes screening for a change relative to a healthy control in the extent of epigenetic modification within two or more of an intron, an intron/exon boundary, and/or a splicing region. A change in extent of epigenetic modification relative to the control is indicative of the presence or severity of the trinucleotide expansion disorder or a propensity to develop such a disorder. The intron, intron/exon boundary and/or splicing region can be Fragile X-related Epigenetic Element 3 in FMR1, intron 2 of FMR1, or genomic FREE2 region as a whole or specific fragments of FREE2 including FREE2 (D), FREE2 (E) or FREE3. A method detects methylation in Fragile X-related Epigenetic Element 2(D) (FREE2(D)) in genomic DNA of a human subject and a computer program assesses progression of a pathological condition associated with the FMR locus in a subject |
| priorityDate | 2010-08-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 38.