Kinetic and electrophoretic studies of human erythrocytes deficient in pyrimidine 5?-nucleotidase
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 51 (1) , 107-111
- https://doi.org/10.1007/bf00278299
Abstract
The mutant enzyme of a patient with hereditary pyrimidine 5′-nucleotidase deficiency was analyzed biochemically. Partially purified by DEAE-Sephadex and concentrated by ultrafiltration, the enzyme had a high Km for the substrate uridine monophosphate. Utilization of the substrate cytidine monophosphate was normal, but utilization of adenosine monophosphate was greatly increased. The enzyme was stable to heat; the pH optimum was acidic. Electrophoresis of the enzyme revealed a very faint, slower than normal band.This publication has 14 references indexed in Scilit:
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