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.
Menardi
C
C
Institute of Biochemistry, University of Innsbruck, Austria.
Schneider
R
R
Neuschmid-Kaspar
F
F
Klocker
H
H
Hirsch-Kauffmann
M
M
Auer
B
B
Schweiger
M
M
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*
D000228:Adenine Phosphoribosyltransferase