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filingDate 2017-10-31-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2019-01-04-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2019-01-04-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-107699568-B
titleOfInvention LDLR gene mutation body and its application
abstract The invention discloses LDLR gene mutation body and its application, it is related to the nucleic acid of coding LDLR mutant of separation, the polypeptide of separation, the kit of the biological sample of the method for the biological sample of the susceptible hypercholesterolemia of screening, the susceptible hypercholesterolemia of screening, the mutant of nucleic acid including LDLR mutant and recombinant cell and the LDLR gene mutation body recombinant protein for reducing plasma low density lipoprotein cholesterol.Wherein, the nucleic acid of the coding LDLR mutant of the separation, compared with SEQ NO:1, the nucleic acid has selected from following at least one mutation: c.C2164T, c.G2146T, c.G2167T, c.A2188T, c.C2215T, c.C2230T and c.G2287T terminate the expression of the LDLR gene.It whether there is by detecting the new mutant in the biological sample, the whether susceptible hypercholesteremia disease of biological sample can be effectively detected.The LDLR gene mutation body recombinant protein can reduce concentration of low density lipoprotein cholesterol in blood plasma simultaneously.
priorityDate 2017-10-31-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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Total number of triples: 445.