title: Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.
authors.affiliation: Department of Medical 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: K
authors.initials: K
authors.lastname: Asaki
authors.forename: H
authors.initials: H
authors.lastname: Takeuchi
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; D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002478:Cells, Cultured; D003241:Consanguinity; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D000228:Adenine Phosphoribosyltransferase