Germline and somatic mutations leading to adenine phosphoribosyltransferase (APRT) deficiency.
Hakoda
M
M
Institute of Rheumatology, Tokyo Women's Medical College, Japan.
Kamatani
N
N
Ohtsuka
S
S
Kashiwazaki
S
S
D015075:2-Aminopurine / Q000031:analogs & derivatives / Q000494:pharmacology; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D000483:Alleles; D005838:Genotype; D005854:Germ Cells / Q000201:enzymology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation; D013601:T-Lymphocytes / Q000187:drug effects / Q000201:enzymology
D015075:2-Aminopurine; C007300:2,6-diaminopurine; D000228:Adenine Phosphoribosyltransferase