title: Novel mutation identified in the PAH gene.
abstract: The investigation of a DNA-amplified fragment of a phenylketonuria (PKU) patient by sequencing reveals a novel mutation in the PAH gene. This mutation represents the deletion of a single base (guanine) localized at the intron 11/exon 12 junction. This newly described mutation may be a frameshift or a splicing mutation. The identified mutation expresses phenotypically as the severe form of PKU.
authors.affiliation: Institute of Molecular Genetics, Russian Academy of Sciences, Moscow.
authors.forename: E V
authors.initials: EV
authors.lastname: Charikova
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D006147:Guanine; D006801:Humans; D008969:Molecular Sequence Data; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation
chemical_list: D006147:Guanine; D004247:DNA; D010651:Phenylalanine Hydroxylase