PMID: 429011Jan 19, 1979Paper

Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants

Human Genetics
F SchapiraC Vigneron

Abstract

A family with the presence of the genes for both galactosemia and the Duarte variant is described. Galactose 1 phospho uridyl transferase has been studied not only by electrophoresis on starch gel, but also by isoelectro-focusing on thin-layer acrylamide. Normal and variant transferases were resolved into three bands, the isoelectric point of which was between 5.40 and 5.10 for the normal subjects, and between 5.25 and 4.95 for subjects with the Duarte variant.

References

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May 14, 1971·Science·T A Tedesco, W J Mellman
Oct 1, 1970·Proceedings of the National Academy of Sciences of the United States of America·H L NadlerM Rachmeler
Mar 1, 1971·The Journal of Pediatrics·C M ChackoH L Nadler
May 22, 1969·Biochemical and Biophysical Research Communications·F Schapira, J C Kaplan
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Jul 1, 1961·Clinica Chimica Acta; International Journal of Clinical Chemistry·E van KAMPEN, W G ZIJLSTRA

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Citations

May 1, 1983·Archives of Disease in Childhood·A F WinderJ N Mount
Oct 1, 2011·IUBMB Life·Thomas J McCorvie, David J Timson
Aug 1, 1991·Clinical Biochemistry·E Beutler
Feb 18, 2014·Clinical Biochemistry·Daniel Morell-GarciaMagdalena Vila
Sep 8, 1998·The Journal of Genetic Psychology·G Stone, P McKenry

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