http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CA-2605561-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_6e29526f284c0155fd79806c9dd5a1c7 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 2006-04-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3d2aa1356723138a3b2f12498b3f0c0a |
| publicationDate | 2006-11-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CA-2605561-A1 |
| titleOfInvention | Methods using kcnc3 gene mutations for spinocerebellar ataxia 13 (sca13) |
| abstract | A method is provided for diagnosing spinocerebellar ataxia 13 (SCA13) or predicting the risk of developing SCA13 in a human comprising: a) analyzing a nucleic acid sample obtained from the human for the presence or absence of a mutation in the transmembrane domain of the KCNC3 gene; wherein the KCNC3 gene without a mutation comprises SEQ lD NO: 19, and b) determining the presence or absence of a missense mutation in the nucleotide sequence of a transmembrane domain of the KCNC3 gene in the sample, wherein the missense mutation in the nucleotide sequence of the transmembrane domain results in a change in the output characteristics of fast spiking cerebellar neurons, whereby determining the presence of the missense mutation in the nucleotide sequence of the transmembrane domain is indicative that the individual has or is at risk of developing SCA13. |
| priorityDate | 2005-04-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 116.