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  • Title: Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase.
    Author: Ishida Y, Miwa S, Miura Y, Kibe A.
    Journal: Clin Chim Acta; 1980 Dec 08; 108(2):285-91. PubMed ID: 6256100.
    Abstract:
    A new variant of hereditary hemolytic anemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency was found in Japan. Biochemical parameters such as the Michaelis constant, thermostability, electrophoresis and pH curve were studied. The variant showed a high Michaelis constant for cytidine 5'-monophosphate, no thermolability, slower electrophoretic mobility and abnormal optimum pH. The results strongly suggest that the mechanism of this enzyme deficiency is due to a structural gene mutation.
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