Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype
- 1 February 2000
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 69 (2) , 101-110
- https://doi.org/10.1006/mgme.2000.2965
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- PAHdb: A locus-specific knowledgebaseHuman Mutation, 1999
- The Structural Basis of PhenylketonuriaMolecular Genetics and Metabolism, 1999
- Monogenic traits are not simple: lessons from phenylketonuriaTrends in Genetics, 1999
- Structural basis of autoregulation of phenylalanine hydroxylase.Nature Structural & Molecular Biology, 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
- Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experienceEuropean Journal of Human Genetics, 1998
- The human gene mutation databaseNucleic Acids Research, 1998
- Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype CorrelationsAmerican Journal of Human Genetics, 1997
- Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1Pediatric Research, 1997
- [1] Phenylalanine 4-monooxygenase from rat liverPublished by Elsevier ,1987