Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase

Clinica Chimica Acta; International Journal of Clinical Chemistry
Y IshidaA Kibe

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.

References

Jul 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·H A BucA Najman
Jul 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·H FujiiK Nomura
Aug 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·R RosaJ Rosa
Oct 1, 1974·The Journal of Clinical Investigation·W N ValentineW S Adams
Mar 1, 1956·Archives of Biochemistry and Biophysics·K K TSUBOI, P B HUDSON

Citations

May 30, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·A HironoS Miwa
Jan 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·D E PagliaR A Brockway
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·J L Vives i Corrons
Feb 13, 2003·British Journal of Haematology·David C ReesAnthony M Marinaki

Related Concepts

Anemia, Hemolytic, Congenital
Drug Stability
Erythrocytes
Cistron
Hydrogen-Ion Concentration
Nucleotidases
Variation (Genetics)
5'-NUCLEOTIDASE

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