Hypoxanthine-guanine phosphoribosyltransferase: Mosaicism in the peripheral erythrocytes of a heterozygote for a normal and a mutant enzyme |
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| Authors: | Irving H Fox Pamela J Marchant and Sheila LaCroix |
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| Institution: | (1) Purine Research Laboratory, University of Toronto Rheumatic Disease Unit, The Wellesley Hospital, Toronto, Ontario, Canada;(2) the Canadian Arthritis and Rheumatism Society, Canada |
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| Abstract: | A mutant form of erythrocyte hypoxanthine-guanine phosphoribosyltransferase with an abnormal isoenzyme pattern was found in a patient with a partial enzyme deficiency and X-linked gout. This abnormal pattern was a marker for the mutant enzyme in hemolysate from the heterozygote for the enzyme deficiency.These studies were generously supported by the Medical Research Council of Canada (MRC # MA4758) and the Canadian Arthritis and Rheumatism Society. |
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| Keywords: | hypoxanthine-guanine phosphoribosyltransferase Lyon hypothesis X chromosome mosaicism |
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