Associated Papers
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Jung-Kc K et al.
Human Mutation, 2019
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
Liang Y et al.
Journal of Human Genetics, 2014
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Shi Z et al.
Proteins, 2012
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.
Bélanger-Quintana A et al.
Molecular Genetics and Metabolism, 2005
PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR et al.
Human Mutation, 2003
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
Pey AL et al.
Human Mutation, 2003
Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.
Chen KJ et al.
Human Genetics, 2002
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Desviat LR et al.
European Journal of Human Genetics : Ejhg, 1999
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
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