Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_396ebf23018b0c0ecf1fb4ae221150e5 |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07H21-04 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate |
2014-03-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate |
2017-01-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_bc4c7f3f3b71761ae4f99ec1a4529f99 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_0681081936346afcbd7bf399059ae3e7 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_c323b3202df4df5cb4db018389104e99 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b258148396676e8041ce0a80c61e5aee http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a237bdc425a88a56d504a9932462bd5e |
publicationDate |
2017-01-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
US-9546402-B2 |
titleOfInvention |
Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein |
abstract |
An ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP) in a subject is provided which comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein that mutation is indicative of an hereditary spastic paraplegias (HSP). |
isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10519503-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2017175196-A1 |
priorityDate |
2006-09-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |