𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Biochemical studies of a human low-activity galactose-1-phosphate uridyl transferase variant

✍ Scribed by W. G. Ng; F. Kline; J. Lin; R. Koch; G. N. Donnell


Publisher
Springer
Year
1978
Tongue
English
Weight
850 KB
Volume
1
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A new genetic variant of galactose-1-pho
✍ R. Scherz; R. Pflugshaupt; R. BΓΌtler πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 508 KB

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
✍ 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

Improved isoelectric focusing of normal
✍ Dr. Anna M. Vaccaro; Michele Muscillo; Ida Mandara; Rosa Salvioli πŸ“‚ Article πŸ“… 1982 πŸ› John Wiley and Sons 🌐 English βš– 398 KB

## Abstract An improved isoelectric focusing (IEF) technique has been developed and used to detect the erythrocyte galactose‐1‐phosphate uridyl transferase isoenzymes. The normal enzyme was resolved by IEF in four bands with isoelectric points (pI) between 5.80 and 6.08. Numerous samples, classifie

On the molecular nature of the Duarte va
✍ Hsien-Chin Lin; Lorne T. Kirby; Won G. Ng; Juergen K. V. Reichardt πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 401 KB

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