Associated Papers
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.
Pecimonova M et al.
Genes, 2019
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
Quality control in the discovery, reporting, and recording of genomic variation.
Cotton RG et al.
Human Mutation, 2000
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
Kozák L et al.
Journal of Medical Genetics, 1997
[Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].
Růzicková S et al.
Casopis Lekaru Ceskych, 1997
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