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

Crossref DOI link: https://doi.org/10.1007/s12519-015-0020-8

Published Online: 2015-04-30

Published Print: 2015-05

Update policy: https://doi.org/10.1007/springer_crossmark_policy

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