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The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients

โœ Scribed by F. Mirzajani; R. Mirfakhraie; F. Nabati; N. Naghibzadeh Tabatabaei; E. Talachian; M. Houshmand


Book ID
108095369
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
83 KB
Volume
39
Category
Article
ISSN
0009-9120

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๐Ÿ“œ SIMILAR VOLUMES


Classical galactosemia and mutations at
โœ Linda Tyfield; Juergen Reichardt; Judy Fridovich-Keil; David T. Croke; Louis J. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 763 KB

Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the end of 1998, more than 150 different base changes

Variants of galactose-1-phosphate uridyl
โœ A. Thomakos; E. Beutler; G. Stamatoyannopoulos ๐Ÿ“‚ Article ๐Ÿ“… 1977 ๐Ÿ› Springer ๐ŸŒ English โš– 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