A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.

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Ashida A, Owada M, Hatakeyama K

A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.

Genomics. 1994 Nov 15;24(2):408-10.

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7698774 [ View in PubMed
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Polypeptides
NameUniProt ID
6-pyruvoyl tetrahydrobiopterin synthaseQ03393Details