title: Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
authors.affiliation: Medizinische Poliklinik der Universität, München, Germany.
authors.forename: B S
authors.initials: BS
authors.lastname: Gathof
authors.forename: J
authors.initials: J
authors.lastname: Geissler
authors.forename: A M
authors.initials: AM
authors.lastname: Wingen
authors.forename: U
authors.initials: U
authors.lastname: Gresser
mesh_terms: D002648:Child; D018387:Codon, Initiator / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D017354:Point Mutation
chemical_list: D018387:Codon, Initiator; D007041:Hypoxanthine Phosphoribosyltransferase