http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-106701709-B
Outgoing Links
Predicate | Object |
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classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-11 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-54 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N9-12 |
filingDate | 2013-05-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate | 2020-02-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationDate | 2020-02-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | CN-106701709-B |
titleOfInvention | ATM gene mutant and application thereof |
abstract | The invention discloses an ATM gene mutant and application thereof, in particular to a separated nucleic acid for coding the ATM gene mutant, a separated polypeptide, a method for screening a biological sample susceptible to ataxia telangiectasia, a system for screening the biological sample susceptible to ataxia telangiectasia and a kit for screening the biological sample susceptible to ataxia telangiectasia. Wherein the isolated nucleic acid encoding the ATM gene mutant has a sequence similar to that of SEQ ID NO:1, having at least one mutation selected from the group consisting of: c.4777-2A > T, c.3078G > T, c.7983_7985delTGT, and c.477_481 delATCTC. By detecting whether the mutant exists in a biological sample, whether the biological sample is susceptible to ataxia telangiectasia can be effectively detected. |
priorityDate | 2013-05-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 715.