Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity.
Roessler
B J
BJ
Department of Internal Medicine, University of Michigan, Ann Arbor 49104.
Golovoy
N
N
Palella
T D
TD
Heidler
S
S
Becker
M A
MA
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006073:Gout / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009154:Mutation; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics*; D014527:Uric Acid / Q000378:metabolism; D014960:X Chromosome
D014527:Uric Acid; D004247:DNA; D012268:Ribose-Phosphate Pyrophosphokinase