title: The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe.
authors.forename: Urh
authors.initials: U
authors.lastname: Groselj
authors.forename: Mojca Zerjav
authors.initials: MZ
authors.lastname: Tansek
authors.forename: Katarina Trebusak
authors.initials: KT
authors.lastname: Podkrajsek
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
mesh_terms: D000483:Alleles; D001708:Biopterins / Q000031:analogs & derivatives* / Q000494:pharmacology; D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000172:deficiency* / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*
chemical_list: D001708:Biopterins; D010651:Phenylalanine Hydroxylase; C003402:sapropterin