| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Research Abstract |
Hypophosphatasia(HPP), an inborn error of metabolism, is caused by various loss-in-function mutations in the tissue-nonspecific alkaline phosphatase gene. However, little has been known as to how these mutations lead to development of HPP. In this study we have examined two missense mutations related with disulfide bond linkage and one mutation involved in dominantly transmitted HPP at the molecular level.
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