title: Human adenine phosphoribosyltransferase (APRT) deficiency: single mutant allele common to the Japanese.
authors.affiliation: Department of Internal Medicine, University of Michigan, Ann Arbor.
authors.forename: Y
authors.initials: Y
authors.lastname: Hidaka
authors.forename: S A
authors.initials: SA
authors.lastname: Tarle
authors.forename: N
authors.initials: N
authors.lastname: Kamatani
authors.forename: W N
authors.initials: WN
authors.lastname: Kelley
authors.forename: T D
authors.initials: TD
authors.lastname: Palella
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D002460:Cell Line; D004247:DNA / Q000096:biosynthesis; D004259:DNA-Directed DNA Polymerase; D005784:Gene Amplification; D006580:Genetic Carrier Screening; D006801:Humans; D015151:Immunoblotting; D007564:Japan; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D010430:Pentosyltransferases / Q000172:deficiency*
chemical_list: D015345:Oligonucleotide Probes; D004247:DNA; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D004259:DNA-Directed DNA Polymerase