| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
We found that large deletions encompassing several exons in AGL or aberrant splicing due to mutations in introns caused abnormal breakdown of glycogen. Conventional analysis failed to detect mutations in certain patients with glycogen storage disease type III; however, new methods, such as re-sequencing, exon copy number assay, mRNA analysis by RT-PCR, and exome sequencing, successfully detected mutations in AGL.
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