http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-110484611-B

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classificationCPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
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classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6858
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883
filingDate 2019-05-22-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2020-11-17-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2020-11-17-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-110484611-B
titleOfInvention Gene detection kit for hyperphenylalaninemia
abstract The invention discloses a gene detection kit for hyperphenylalaninemia, which comprises a PCR amplification primer, a mass spectrum extension primer, a PCR reaction buffer solution, dNTP Mix and MgCl 2 Taq enzyme, SAP reaction buffer solution, SAP enzyme, iPlex reaction buffer solution, MassARRAY chip, etc. The kit can detect 45 hot spot gene variation sites of hyperphenylalaninemia, wherein the 45 hot spot gene variation sites comprise 39 variation sites of PAH genes and 6 variation sites of PTS genes, and the detection gene site has high coverage, high flux, short time, low cost and high accuracy. Therefore, the kit has great application potential.
priorityDate 2019-05-22-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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