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A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction.

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Presentation on theme: "A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction."— Presentation transcript:

1 A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype  Per Guldberg, Françoise Rey, Johannes Zschocke, Valentino Romano, Baudouin François, Luc Michiels, Kurt Ullrich, Georg F. Hoffmann, Peter Burgard, Hildgund Schmidt, Concetta Meli, Enrica Riva, Irma Dianzani, Alberto Ponzone, Jean Rey, Flemming Güttler  The American Journal of Human Genetics  Volume 63, Issue 1, Pages (July 1998) DOI: /301920 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Distribution of phenotypes for the 12 PAH mutations that were found in more than one phenotype category, in functionally hemizygous patients. The American Journal of Human Genetics  , 71-79DOI: ( /301920) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

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