Genetic variation in phenylketonuria: analysis of the PAHvdb database
Introduction. Phenylketonuria (PKU) is the most frequent inborn metabolism error. The principal determinant factor for the metabolic phenotype in PKU is the residual enzymatic activity, which is determined by the variations in the phenylalanine hydroxylase (PAH) gene. To date, there are known over 1...
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| Main Authors: | , , |
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| Format: | Book |
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Amaltea Medical Publishing House,
2022-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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