http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-2018042511-A
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_a85e6ea1cc13d448ddceec60a0be2d37 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-50 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09 |
| filingDate | 2016-09-15^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_0cf68adc81764de3c46afceeaef0bf6b http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9a9442d1f98f4813ab9183d1d69cb1b6 |
| publicationDate | 2018-03-22^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | JP-2018042511-A |
| titleOfInvention | Method for detecting severe early childhood neurodegenerative encephalopathy or its carrier |
| abstract | An object of the present invention is to provide a definite diagnosis and prenatal diagnosis of severe early childhood-onset neurodegenerative encephalopathy, and means for enabling detection of the carrier. As a result of intensive analysis to identify responsible genes in 8 cases of 4 families with neurodegenerative encephalopathy with early onset childhood with different symptom severity, a total of 7 types of TBCD genes were found. In addition, ARL2 and TBCE and other binding partners between the 6 mutations found as complex heterozygous mutations in severe cases and the 1 homozygous mutation found in relatively mild cases And found that there is a clear difference in the binding level. [Selection] Figure 1 |
| priorityDate | 2016-09-15^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
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