title: A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.
authors.affiliation: Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: P
authors.initials: P
authors.lastname: Guldberg
authors.forename: H C
authors.initials: HC
authors.lastname: Lou
authors.forename: K F
authors.initials: KF
authors.lastname: Henriksen
authors.forename: I
authors.initials: I
authors.lastname: Mikkelsen
authors.forename: B
authors.initials: B
authors.lastname: Olsen
authors.forename: B
authors.initials: B
authors.lastname: Holck
authors.forename: F
authors.initials: F
authors.lastname: Güttler
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010649:Phenylalanine / Q000097:blood*; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation
chemical_list: D010649:Phenylalanine; D004247:DNA; D010651:Phenylalanine Hydroxylase