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

✍ Scribed by F. Schapira; C. Gregori; J. Banroques; M. Vidailhet; S. Despoisses; C. Vigneron

Book ID: 104700795
Publisher: Springer
Year: 1979
Tongue: English
Weight: 439 KB
Volume: 46
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00278906

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✦ Synopsis

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.

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