Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China

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• Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
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• Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.
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