Associated Papers
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A et al.
Annals of Human Genetics, 2007
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.
Giannattasio S et al.
Human Heredity, 2001
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
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E et al.
American Journal of Human Genetics, 1997
Characterization of phenylketonuria alleles in the Italian population.
Dianzani I et al.
European Journal of Human Genetics : Ejhg, 1995
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.
Dianzani I et al.
Journal of Medical Genetics, 1993
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