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Two male patients with urate overexcretion and clinical gout in a family showed activity of phosphoribosylpyrophosphate (PRPP) synthetase in erythrocyte lysates (3.1-fold) greater than that found in normal subjects. Hemolysates from 5 female persons in this family contained (2.7-fold) increased enzyme activity suggesting X-linked dominant transmission of the abnormality. Increased maximal velocity of the enzyme, aberrant protein pattern in polyacrylamide electrophoresis, and increased thermolability in purified enzyme suggested that this enzyme is a mutant one. From these findings, it was assumed that the characteristics of this enzyme were different from 4 previously reported enzymes.
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I Akaoka, and
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October 1973,
Proceedings of the National Academy of Sciences of the United States of America,
I Akaoka, and
S Fujimori, and
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Human heredity,
I Akaoka, and
S Fujimori, and
N Kamatani, and
F Takeuchi, and
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Y Nishida, and
A Hashimoto, and
Y Horiuchi
July 1973,
Der Urologe. Ausg. A,
I Akaoka, and
S Fujimori, and
N Kamatani, and
F Takeuchi, and
E Yano, and
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Y Horiuchi
January 1984,
Advances in experimental medicine and biology,
I Akaoka, and
S Fujimori, and
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E Yano, and
Y Nishida, and
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Y Horiuchi
April 1982,
The Journal of laboratory and clinical medicine,
I Akaoka, and
S Fujimori, and
N Kamatani, and
F Takeuchi, and
E Yano, and
Y Nishida, and
A Hashimoto, and
Y Horiuchi
November 1975,
Israel journal of medical sciences,
I Akaoka, and
S Fujimori, and
N Kamatani, and
F Takeuchi, and
E Yano, and
Y Nishida, and
A Hashimoto, and
Y Horiuchi
August 1973,
The American journal of medicine,
I Akaoka, and
S Fujimori, and
N Kamatani, and
F Takeuchi, and
E Yano, and
Y Nishida, and
A Hashimoto, and
Y Horiuchi
March 1973,
Science (New York, N.Y.),
I Akaoka, and
S Fujimori, and
N Kamatani, and
F Takeuchi, and
E Yano, and
Y Nishida, and
A Hashimoto, and
Y Horiuchi
January 1973,
Advances in experimental medicine and biology,
