A Phenylalanine Hydroxylase Amino Acid Polymorphism with Implications for Molecular Diagnostics
- 31 July 2001
- journal article
- research article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 73 (3) , 280-284
- https://doi.org/10.1006/mgme.2001.3180
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- In Vitro Expression of 34 Naturally Occurring Mutant Variants of Phenylalanine Hydroxylase: Correlation with Metabolic Phenotypes and Susceptibility toward Protein AggregationMolecular Genetics and Metabolism, 2001
- Modifier Genes Convert “Simple” Mendelian Disorders to Complex TraitsMolecular Genetics and Metabolism, 2000
- Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems DynamicsAmerican Journal of Human Genetics, 2000
- Urea-induced Denaturation of Human Phenylalanine HydroxylasePublished by Elsevier ,1999
- Monogenic traits are not simple: lessons from phenylketonuriaTrends in Genetics, 1999
- A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic PhenotypeAmerican Journal of Human Genetics, 1998
- Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype CorrelationsAmerican Journal of Human Genetics, 1997
- PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systemsHuman Mutation, 1996
- Tryptophan Fluorescence of Human Phenylalanine Hydroxylase Produced in Escherichia coliBiochemistry, 1995
- Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzymeBiochemical Journal, 1995