title: Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
authors.affiliation: Department of Medical Genetics, Institute of Pediatrics, Medical Academy, Krakow, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Zygulska
authors.forename: A
authors.initials: A
authors.lastname: Eigel
authors.forename: J J
authors.initials: JJ
authors.lastname: Pietrzyk
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics
chemical_list: D004247:DNA; D010651:Phenylalanine Hydroxylase