Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2018
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2017
28982351 (PubMed )
Supplement: 12881_2017_467_MOESM1_ESM.xls › Sheet1
Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.
Trefz FK et al.
Journal of Inherited Metabolic Disease, 2010
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
Trefz FK et al.
Journal of Inherited Metabolic Disease, 2009
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Aulehla-Scholz C et al.
Human Mutation, 2003
[Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic].
Baturina OA et al.
Tsitologiia I Genetika, 0
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