| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_78587acbfc8d4c9e9ac3baa7021087d7
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_c731b1258bdc5ec03140bf17ca27dc40 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-5091 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-50 |
| filingDate |
1996-09-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
1998-09-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5b18e41126a766921a22a940ab1e9947
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_dd3f39362bf7baf619b6c8564c60b976
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4db1a9a9e4633be789d325b3de0cc92c
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_113d76ac72656f365b41502927bcf8c3 |
| publicationDate |
1998-09-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-5811244-A |
| titleOfInvention |
In vitro method for identifying a clinical disorder associated with Nhe1 mutation |
| abstract |
Disclosed is the identification of a mutation which is responsible for ataxia and epilepsy in a murine model system. More specifically, a mutation has been identified within the Nhe1 gene (also referred to as the Slc9a1 gene) which results in both ataxia and epilepsy. The specific mutation identified is an A to T transition at nucleotide 1639 which creates a premature stop codon. The identification of this mutation enables methods for the detection of clinical disorders associated with a defect in a cation exchanger (e.g., Nhe1). |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2004097544-A1 |
| priorityDate |
1996-09-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |