Direct evidence for a hot spot of germline mutation at HPRT locus.
Fujimori
S
S
Second Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan.
Tagaya
T
T
Yamaoka
N
N
Saito
H
H
Kamatani
N
N
Akaoka
I
I
D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D005190:Family; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D007041:Hypoxanthine Phosphoribosyltransferase