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filingDate 2012-05-25-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2014-06-30-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber JP-2014515269-A
titleOfInvention Compositions and methods for screening for creatine transporter deficiency
abstract Disclosed are amplification primers, sequencing primers, kits for screening, and screening methods for identifying SLC6A8 creatine transporter gene mutations. The screening method involves treating a DNA sample with a polymerase chain reaction amplification primer for amplifying a region of DNA having SLC6A8 to produce first, second, and third amplification products, the first, second Sequencing the second and third amplification products with a sequencing primer pair to provide the DNA sequence of SLC6A8 in the sample and comparing the DNA sequence of SLC6A8 to the reference DNA sequence of SLC6A8. [Selection] Figure 1
priorityDate 2011-05-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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