Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing

Springer Science and Business Media LLC - Tập 63 - Trang 274-279 - 1983
R. I. Kelley1, H. Harris1, W. J. Mellman1
1Department of Human Genetics and Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA

Tóm tắt

Isoelectric focusing (IEF) in polyacrylamide gels has been used to study the isozymes of human galactose-1-phosphate uridylyltransferase (GALT) in erythrocytes and fibroblasts. In addition to the usefulness of IEF in differentiating normal, Duarte variant, and galactosemic homozygotes and heterozygotes, the ability of IEF to distinguish the residual GALT activity in two different galactosemic fibroblast lines and in revertants from them is demonstrated.

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