title: A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.
abstract: A nonsense mutation at amino acid residue 184 in the human peptidase D (PEPD) gene caused the production of a truncated polypeptide. Characterizing molecular defects in patients provides clues to elucidate the relationship between the phenotype and the genotype.
authors.affiliation: Department of Molecular and Cellular Pharmacology, National Children's Medical Research Center, Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kikuchi
authors.forename: A
authors.initials: A
authors.lastname: Tanoue
authors.forename: F
authors.initials: F
authors.lastname: Endo
authors.forename: S
authors.initials: S
authors.lastname: Wakasugi
authors.forename: N
authors.initials: N
authors.lastname: Matsuo
authors.forename: G
authors.initials: G
authors.lastname: Tsujimoto
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015153:Blotting, Western; D002478:Cells, Cultured; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004150:Dipeptidases / Q000172:deficiency / Q000235:genetics*; D005347:Fibroblasts / Q000201:enzymology; D005838:Genotype; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018389:Codon, Nonsense; D004150:Dipeptidases; C022449:proline dipeptidase