title: Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.
authors.affiliation: Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup.
authors.forename: P
authors.initials: P
authors.lastname: Guldberg
authors.forename: K F
authors.initials: KF
authors.lastname: Henriksen
authors.forename: B
authors.initials: B
authors.lastname: Thöny
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: F
authors.initials: F
authors.lastname: Güttler
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004247:DNA / Q000032:analysis; D003718:Denmark; D005091:Exons; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D008403:Mass Screening; D010641:Phenotype; D010649:Phenylalanine / Q000378:metabolism*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000517:prevention & control; D017354:Point Mutation
chemical_list: D003062:Codon; D010649:Phenylalanine; D004247:DNA; D010651:Phenylalanine Hydroxylase