http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-103509801-B

Outgoing Links

Predicate Object
classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12M1-34
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12
filingDate 2012-06-20-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2017-06-06-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2017-06-06-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-103509801-B
titleOfInvention Skeletal muscle chloride ion channel gene mutant and its application
abstract The nucleic acid of the encoding skeletal flesh chloride channel mutant the present invention relates to separate, separate polypeptide, the method for the biological sample of the susceptible congenital myotonia disease of screening, the system of the biological sample of the susceptible congenital myotonia disease of screening and the kit for screening the biological sample of susceptible congenital myotonia disease.Wherein, the nucleic acid of the encoding skeletal flesh chloride channel mutant of separation, with SEQ ID NO:1 compares, with selected from following at least one mutation:c.26552_656insC、c.1616C>T, c.2057_2058delAC and c.313C>T.By detecting that these new mutants whether there is in biological sample, whether the susceptible congenital myotonia disease of biological sample can be effectively detected.
priorityDate 2012-06-20-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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