Associated Papers
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 2021
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S13_RASopathy_B
Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.
Patel D et al.
Scientific Reports, 2016
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.
Zekanowski C et al.
Genetic Testing, 1999
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Eisensmith RC et al.
Pediatrics, 1996
[Mutations causing hereditary hyperphenylalaninemia].
Zekanowski C et al.
Medycyna Wieku Rozwojowego, 0
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