title: 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.
authors: Ching-Wan
authors: CW
authors: Lam
authors: King-Fai
authors: KF
authors: Ng
authors: Ho-Ming
authors: HM
authors: Chan
authors: Kwok-Piu
authors: KP
authors: Lee
authors: Tak-Shing
authors: TS
authors: Siu
authors: Sidney
authors: S
authors: Tam
mesh_terms: 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*
chemical_list: D008024:Ligands; D007041:Hypoxanthine Phosphoribosyltransferase