title: Identification of novel mutations in the human HPRT gene.
abstract: Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNVs). We report three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three LNS affected male patients.
authors.affiliation: Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, California 92103-8467, USA. kvn006@ucsd.edu
authors.forename: Khue Vu
authors.initials: KV
authors.lastname: Nguyen
authors.forename: William L
authors.initials: WL
authors.lastname: Nyhan
mesh_terms: D001483:Base Sequence; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase