title: Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.
authors.affiliation: MRC Group in Genetics, McGill University-Montreal Children's Hospital Research Institute, Québec, Canada.
authors.forename: S W
authors.initials: SW
authors.lastname: John
authors.forename: R
authors.initials: R
authors.lastname: Rozen
authors.forename: R
authors.initials: R
authors.lastname: Laframboise
authors.forename: C
authors.initials: C
authors.lastname: Laberge
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
mesh_terms: D001483:Base Sequence; D002881:Chromosomes, Human, Pair 12; D005091:Exons; D005260:Female; D005602:France / Q000208:ethnology; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D011792:Quebec
chemical_list: D010651:Phenylalanine Hydroxylase