Associated Papers
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2024
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.
Aubi O et al.
Nature Communications, 2021
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.
Pecimonova M et al.
Genes, 2019
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.
Réblová K et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
Dündar H et al.
Molecular Genetics and Metabolism, 2012
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