title: Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.
authors.affiliation: deBelle Laboratory, McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada. MC77@musica.mcgill.ca
authors.forename: P J
authors.initials: PJ
authors.lastname: Waters
authors.forename: M A
authors.initials: MA
authors.lastname: Parniak
authors.forename: B R
authors.initials: BR
authors.lastname: Akerman
authors.forename: A O
authors.initials: AO
authors.lastname: Jones
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
mesh_terms: D006801:Humans; D020125:Mutation, Missense; D010651:Phenylalanine Hydroxylase / Q000235:genetics* / Q000378:metabolism; D010661:Phenylketonurias / Q000201:enzymology*
chemical_list: D010651:Phenylalanine Hydroxylase