Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
Willers
I
I
Institut für Humangenetik, Universitäts-Klinikum Eppendorf, Hamburg, Germany.
Bolz
H
H
Wehnert
M
M
Gal
A
A
D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D009154:Mutation
D007041:Hypoxanthine Phosphoribosyltransferase