Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency: Possible Regulation of Gene Expression in a Patient with the Homozygous L48S Mutation

By Blau N.   Trefz F.K.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 2, 2002-02 ,pp. : 186-187

Elsevier

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Mild Hyperphenylalaninemia and Heterozygosity of the Phenylalanine Hydroxylase Gene

By Koch R.   Guttler F.   Guldberg P.   Rouse B.  

Molecular Genetics and Metabolism, Vol. 63, Iss. 2, 1998-02 ,pp. : 148-150

Academic Press

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Glycerol Increases the Yield and Activity of Human Phenylalanine Hydroxylase Mutant Enzymes Produced in a Prokaryotic Expression System

By Leandro P.   Lechner M.C.   Tavares de Almeida I.   Konecki D.  

Molecular Genetics and Metabolism, Vol. 73, Iss. 2, 2001-06 ,pp. : 173-178

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In Vitro Expression of 34 Naturally Occurring Mutant Variants of Phenylalanine Hydroxylase: Correlation with Metabolic Phenotypes and Susceptibility toward Protein Aggregation

By Gjetting T.   Petersen M.   Guldberg P.   Güttler F.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 2, 2001-02 ,pp. : 132-143

Academic Press

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The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

By Leandro P.   Rivera I.   Lechner M.C.   de Almeida I.T.   Konecki D.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 3, 2000-03 ,pp. : 204-212

Academic Press

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