title: Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.
authors.affiliation: Institute of Biochemistry, University of Innsbruck, Austria.
authors.forename: C
authors.initials: C
authors.lastname: Menardi
authors.forename: R
authors.initials: R
authors.lastname: Schneider
authors.forename: F
authors.initials: F
authors.lastname: Neuschmid-Kaspar
authors.forename: H
authors.initials: H
authors.lastname: Klocker
authors.forename: M
authors.initials: M
authors.lastname: Hirsch-Kauffmann
authors.forename: B
authors.initials: B
authors.lastname: Auer
authors.forename: M
authors.initials: M
authors.lastname: Schweiger
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D001483:Base Sequence; D004260:DNA Repair; D005784:Gene Amplification; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA; D013698:Templates, Genetic; D044465:White People / Q000235:genetics*
chemical_list: D000228:Adenine Phosphoribosyltransferase