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