A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRT HongKong), in a Chinese teenager with recurrent gouty arthritis.
Lam
Ching-Wan
CW
Ng
King-Fai
KF
Chan
Ho-Ming
HM
Lee
Kwok-Piu
KP
Siu
Tak-Shing
TS
Tam
Sidney
S
D000293:Adolescent; D015210:Arthritis, Gouty / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D002681:China; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D008024:Ligands; D008297:Male; D009154:Mutation / Q000235:genetics*
D008024:Ligands; D007041:Hypoxanthine Phosphoribosyltransferase