title: Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C).
authors.affiliation: Department of Medical Genetics, Haukeland Hospital, University of Bergen, Norway.
authors.forename: S
authors.initials: S
authors.lastname: Ellingsen
authors.forename: P M
authors.initials: PM
authors.lastname: Knappskog
authors.forename: H G
authors.initials: HG
authors.lastname: Eiken
mesh_terms: D005091:Exons; D006801:Humans; D009154:Mutation; D010661:Phenylketonurias / Q000235:genetics*; D012326:RNA Splicing