دورية أكاديمية

A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria

التفاصيل البيبلوغرافية
العنوان: A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria
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
الوصف
تدمد:17088569
18670687
DOI:10.1007/s12519-015-0020-8