Point mutations in PRPS1, the gene encoding the PRPP synthetase (PRS) 1 isoform, underlie X-linked PRS superactivity associated with purine nucleotide inhibitor-resistance.
Becker
M A
MA
University of Chicago, IL, USA.
Nosal
J M
JM
Switzer
R L
RL
Smith
P R
PR
Palella
T D
TD
Roessler
B J
BJ
D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D011685:Purine Nucleotides / Q000494:pharmacology*; D011994:Recombinant Proteins / Q000037:antagonists & inhibitors; D012268:Ribose-Phosphate Pyrophosphokinase / Q000037:antagonists & inhibitors* / Q000235:genetics*; D014960:X Chromosome
D007527:Isoenzymes; D011685:Purine Nucleotides; D011994:Recombinant Proteins; D012268:Ribose-Phosphate Pyrophosphokinase