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
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN et al.
Jimd Reports, 2012
Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.
Blau N et al.
European Journal of Pediatrics, 2003
Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population.
Enns GM et al.
Pediatric Research, 1999
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.
Zekanowski C et al.
Genetic Testing, 1999
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
Guldberg P et al.
American Journal of Human Genetics, 1996
[Mutations causing hereditary hyperphenylalaninemia].
Zekanowski C et al.
Medycyna Wieku Rozwojowego, 0
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