Associated Papers
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Li Y et al.
Science (new York, N.y.), 2021
Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions.
Ho PY et al.
Biochemical and Biophysical Research Communications, 2008
PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR et al.
Human Mutation, 2003
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression.
Waters PJ
Human Mutation, 2003
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.
Gjetting T et al.
Molecular Genetics and Metabolism, 2001
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Acosta A et al.
Human Mutation, 2001
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Acosta AX et al.
Human Mutation, 2001
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
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