HPRT-mutations in Italian Lesch-Nyhan patients.
Gathof
B S
BS
Purine Laboratory, Medizinische Poliklinik, University of Munich, Germany.
Rocchigiani
M
M
Micheli
V
V
Gaigl
Z
Z
Gresser
U
U
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
D014364:Tryptophan; D007041:Hypoxanthine Phosphoribosyltransferase; D005998:Glycine