Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleA novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.AuthorsMaruo, Yoshihiro; Suzaki, Masafumi; Matsui, Katsuyuki; Mimura, Yu; Mori, Asami; Shintaku, Haruo; Takeuchi, YoshihiroPublicationWorld Journal of Pediatrics, 2015, Vol 11, Issue 2, p181ISSN1708-8569Publication typeArticleDOI10.1007/s12519-015-0020-8