Mutations in the hypoxanthine-guanine phosphoribosyltransferase gene in Spanish HPRT deficient families.
Torres
R J
RJ
Divisions of Clinical Biochemistry, Universidad Autonoma, Madrid, Spain.
Mateos
F A
FA
Molano
J
J
Gathoff
B S
BS
O'Neill
J P
JP
Gundel
R M
RM
Trombley
L
L
Puig
J G
JG
D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D013030:Spain
D007041:Hypoxanthine Phosphoribosyltransferase