title: Mutational basis of adenine phosphoribosyltransferase deficiency.
abstract: The mutational basis of APRT deficiency was studied in non-Japanese and Japanese patients. Fifteen different mutations have been identified altogether. Of these 4 were common, 6 were located in exon 3, and two at the exon 4-intron 4 junction. The common mutations were a missense mutation in exon 3 (asp65----val) and a T insertion at the exon 4-intron 4 junction in non-Japanese patients, a nonsense mutation in exon 3 (trp98----end) in Type I Japanese patients, and an exon 5 missense mutation (met136----thr) in Type II patients. The other mutations in Type I patients consisted mainly of single base changes and small deletions.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202.
authors.forename: A
authors.initials: A
authors.lastname: Sahota
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: P J
authors.initials: PJ
authors.lastname: Stambrook
authors.forename: J A
authors.initials: JA
authors.lastname: Tischfield
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation
chemical_list: D000228:Adenine Phosphoribosyltransferase