title: Molecular basis of a human purine nucleoside phosphorylase deficiency.
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005796:Genes; D006801:Humans; D046911:Macromolecular Substances; D009154:Mutation; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: D046911:Macromolecular Substances; D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase