title: HPRT-mutations in Italian Lesch-Nyhan patients.
authors.affiliation: Purine Laboratory, Medizinische Poliklinik, University of Munich, Germany.
authors.forename: B S
authors.initials: BS
authors.lastname: Gathof
authors.forename: M
authors.initials: M
authors.lastname: Rocchigiani
authors.forename: V
authors.initials: V
authors.lastname: Micheli
authors.forename: Z
authors.initials: Z
authors.lastname: Gaigl
authors.forename: U
authors.initials: U
authors.lastname: Gresser
mesh_terms: D001483:Base Sequence; D005091:Exons; D005260:Female; D005998:Glycine; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007558:Italy; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009679:Nuclear Family; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014364:Tryptophan
chemical_list: D014364:Tryptophan; D007041:Hypoxanthine Phosphoribosyltransferase; D005998:Glycine