http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-107828883-B

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classificationCPCAdditional http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
classificationCPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6806
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6806
filingDate 2017-12-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2020-12-25-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2020-12-25-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-107828883-B
titleOfInvention Detection primer group and kit for phenylketonuria and gene mutation detection method
abstract The invention discloses a detection primer group and a kit for phenylketonuria and a gene mutation detection method. The invention provides a primer group for covering 6 genes and shearing sites of about 10bp at the upstream and the downstream of the 6 genes aiming at genes PAH, PTS, GCH1, QDPR, PCBD1 and SPR related to phenylketonuria for the first time, and the primer group has high specificity, small mutual interference of primers, high uniformity and high expression depth of an amplicon in a multiple PCR reaction system. The invention has the advantages of rapidness, comprehensiveness, accuracy and simple operation, is suitable for detecting samples such as blood, blood spots, leucocytes and the like, has more coverage, more detection sites and high accuracy compared with the prior art, can be applied to the aspects of disease prevention such as the detection of phenylketonuria gene mutation, the detection of carriers, genetic counseling and the like, and can also be applied to the guidance of disease treatment.
priorityDate 2017-12-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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