Associated Papers
Improving the in silico assessment of pathogenicity for compensated variants.
Azevedo L et al.
European Journal of Human Genetics : Ejhg, 2016
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E et al.
Orphanet Journal of Rare Diseases, 2015
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Dobrowolski SF et al.
Molecular Genetics and Metabolism, 2007
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG et al.
European Journal of Human Genetics : Ejhg, 2000
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P et al.
American Journal of Human Genetics, 1998
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E et al.
American Journal of Human Genetics, 1997
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
Bénit P et al.
Human Mutation, 1994
[What can we expect from identification of mutations of the phenylalanine hydroxylase gene?].
Rey J et al.
Archives Francaises De Pediatrie, 1992
[Catalog of mutations of the phenylalanine hydroxylase gene].
Rey F et al.
Archives Francaises De Pediatrie, 1992
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