Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing
- 1 May 1983
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 63 (3) , 274-279
- https://doi.org/10.1007/bf00284663
Abstract
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.This publication has 15 references indexed in Scilit:
- Purification of galactose-1-phosphate uridylyltransferase from human placentaArchives of Biochemistry and Biophysics, 1981
- Human red cell galactose 1-phosphate uridylyltransferase: Effects of site-specific reagents on catalytic activityArchives of Biochemistry and Biophysics, 1981
- Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and duarte variantsHuman Genetics, 1979
- Microheterogeneity of human galactose-1-Phosphate uridylyl transferase. Isoelectrofocusing resultsBiochemical and Biophysical Research Communications, 1978
- Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.Proceedings of the National Academy of Sciences, 1977
- Improved technique for electrophoresis of human galactose-1-P uridyl transferase (EC 2.7.7.12)Human Genetics, 1977
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971
- Liver galactose-l-phosphate uridyl transferase: activity in normal and galactosemic subjectsJournal of Clinical Investigation, 1971
- Characteristics of galactose-1-phosphate uridyl transferase in intestinal mucosa of normal and galactosemic humansMetabolism, 1970
- The metabolism of galactose by patients with congenital galactosemiaThe American Journal of Medicine, 1965