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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