Associated Papers
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
Structure modelling and site-directed mutagenesis of the rat aromatic L-amino acid pyridoxal 5'-phosphate-dependent decarboxylase: a functional study.
Poupon A et al.
Proteins, 1999
Degradation rates differ between mutant and wild-type forms of phenylalanine hydroxylase expressed in vitro.
Waters PJ et al.
Biochemical Society Transactions, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
Waters PJ et al.
Human Mutation, 1998
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).
Waters PJ et al.
Human Mutation, 1998
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