Partial hypoxanthine phosphoribosyltransferase deficiency: unrecognized until adult ages.
Kamatani
N
N
D000293:Adolescent; D000328:Adult; D000818:Animals; D018076:DNA, Complementary / Q000032:analysis; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000201:enzymology; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation
D018076:DNA, Complementary; D007041:Hypoxanthine Phosphoribosyltransferase