Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.
Yamada
Y
Y
Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan.
Nomura
N
N
Kitoh
H
H
Wakamatsu
N
N
Ogasawara
N
N
D000368:Aged; D005091:Exons; D006073:Gout / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007564:Japan; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation
D007041:Hypoxanthine Phosphoribosyltransferase