title: Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.
authors.affiliation: Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Pérez
authors.forename: L R
authors.initials: LR
authors.lastname: Desviat
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D004330:Drosophila / Q000201:enzymology / Q000235:genetics; D015870:Gene Expression; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000145:classification / Q000209:etiology / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D013030:Spain
chemical_list: D018076:DNA, Complementary; D010651:Phenylalanine Hydroxylase