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Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia

โœ Scribed by Hans P. Schwarz; Klaus A. Zuppinger; Andreas Zimmerman; Helen Dauwalder; Rudolph Scherz; Dennis M. Bier

Book ID
119459709
Publisher
Elsevier Science
Year
1982
Tongue
English
Weight
508 KB
Volume
100
Category
Article
ISSN
1097-6833

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๐Ÿ“œ SIMILAR VOLUMES

Isoelectrofocusing of erythrocyte galact
Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and duarte variants
โœ F. Schapira; C. Gregori; J. Banroques; M. Vidailhet; S. Despoisses; C. Vigneron ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 439 KB

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 resolve