دورية أكاديمية
A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria
العنوان: | A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria |
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المؤلفون: | Maruo, Yoshihiro, Suzaki, Masafumi, Matsui, Katsuyuki, Mimura, Yu, Mori, Asami, Shintaku, Haruo, Takeuchi, Yoshihiro |
المصدر: | World Journal of Pediatrics. May 2015 11(2):181-184 |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 17088569 18670687 |
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DOI: | 10.1007/s12519-015-0020-8 |