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Estimation of the gene frequency of the Duarte variant of galactose-1-phosphate uridyl transferase

✍ Scribed by W. J. MELLMAN; T. A. TEDESCO; P. FEIGL

Book ID
115247079
Publisher
John Wiley and Sons
Year
1968
Tongue
English
Weight
542 KB
Volume
32
Category
Article
ISSN
0003-4800

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πŸ“œ SIMILAR VOLUMES

On the molecular nature of the Duarte va
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT)
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Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Du

A new genetic variant of galactose-1-pho
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The enzyme galactose-1-phosphate uridyl transferase (E.C.2.7.7.12), which has an important function in the metabolism of galactose, exists in multiple molecular forms. The different phenotypes are genetically determined. They can be distinguished according to their electrophoretic mobility. The enzy

Variants of galactose-1-phosphate uridyl
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✍ A. Thomakos; E. Beutler; G. Stamatoyannopoulos πŸ“‚ Article πŸ“… 1977 πŸ› Springer 🌐 English βš– 260 KB

The frequency of variants of galactose-1-phosphate uridyl transferase was determined among the nine Greek populations by studying a sample of 1570 unselected individuals. Average frequency of normal allele GALT=0.942, galactosemia gen GALTG=0.0021 and the Duarte variant gene GALTD=0.0548 were observ