A novel large deletion (exons 12, 13) and a missense...

World Journal of Pediatrics 2015 / 5 Vol. 11; Iss. 2

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

Maruo, Yoshihiro, Suzaki, Masafumi, Matsui, Katsuyuki, Mimura, Yu, Mori, Asami, Shintaku, Haruo, Takeuchi, Yoshihiro
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Volume:
11
Language:
english
Journal:
World Journal of Pediatrics
DOI:
10.1007/s12519-015-0020-8
Date:
May, 2015
File:
PDF, 622 KB
english, 2015
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