title: Molecular characterization of a novel mutation in APRT heterozygotes.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202, USA.
authors.forename: A
authors.initials: A
authors.lastname: Sahota
authors.forename: S
authors.initials: S
authors.lastname: Bye
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: N H
authors.initials: NH
authors.lastname: Khattar
authors.forename: M S
authors.initials: MS
authors.lastname: Turker
authors.forename: F
authors.initials: F
authors.lastname: Moro
authors.forename: H A
authors.initials: HA
authors.lastname: Simmonds
authors.forename: B T
authors.initials: BT
authors.lastname: Emmerson
authors.forename: R B
authors.initials: RB
authors.lastname: Gordon
authors.forename: J A
authors.initials: JA
authors.lastname: Tischfield
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D003001:Cloning, Molecular; D004912:Erythrocytes / Q000201:enzymology; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006073:Gout / Q000201:enzymology / Q000235:genetics; D006801:Humans; D008297:Male; D009679:Nuclear Family; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D000228:Adenine Phosphoribosyltransferase