Associated Papers
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Jung-Kc K et al.
Human Mutation, 2019
Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
Klaassen K et al.
Biochemical Genetics, 2018
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Shi Z et al.
Proteins, 2012
Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients.
Zekanowski C et al.
Human Heredity, 2001
Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.
Zekanowski C et al.
Journal of Medical Screening, 2001
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
Zekanowsk C et al.
Acta Biochimica Polonica, 2000
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.
Zekanowski C et al.
Genetic Testing, 1999
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
[Mutations causing hereditary hyperphenylalaninemia].
Zekanowski C et al.
Medycyna Wieku Rozwojowego, 0
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