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filingDate 2020-12-31-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2022-01-28-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2022-01-28-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-112725432-B
titleOfInvention Primer, probe and kit for detecting Citrin deficiency disease gene
abstract The invention discloses a primer, a probe and a kit for detecting a Citrin deficiency disease gene. Specifically provides a multiplex PCR primer for detecting Citrin deficiency SLC25A13 gene mutation, the nucleotide sequence of which is shown in SEQ ID NO. 1-16, and a probe for detecting Citrin deficiency SLC25A13 gene mutation, the nucleotide sequence of which is shown in SEQ ID NO. 18-39; and provides a gene chip and a detection kit for detecting the Citrin deficiency. The detection kit can simultaneously detect 13 Citrin deficiency SLC25A13 gene types through one-time test, and can amplify the Citrin deficiency genes under the same condition, thereby reducing the demand of a PCR instrument, reducing the operation steps and lowering the cost. The kit disclosed by the invention is good in specificity, high in sensitivity, short in detection time, low in cost and convenient to operate, and has great significance for developing clinical screening, genetic counseling and prenatal diagnosis of Citrin deficiency patients.
priorityDate 2020-12-31-04:00^^<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: 30.